Is CDK13 p.Ser151Phe (c.452C>T) pathogenic?

CDK13 p.Ser151Phe (c.452C>T) is classified Conflicting classifications of pathogenicity in CDK13 (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2026-01-22). AlphaMissense: likely pathogenic (0.9154); Very rare (popmax 0.0031%, afr); Associated with Inborn genetic diseases.

What condition is associated with CDK13 p.Ser151Phe (c.452C>T)?

CDK13 p.Ser151Phe (c.452C>T) is associated with Inborn genetic diseases (ClinVar).

How common is CDK13 p.Ser151Phe (c.452C>T) in the general population?

CDK13 p.Ser151Phe (c.452C>T) is very rare (popmax 0.0031%, afr) (gnomAD).

What do computational predictors say about CDK13 p.Ser151Phe (c.452C>T)?

AlphaMissense predicts likely pathogenic (score 0.9154) — an in-silico prediction, not a clinical call.

CDK13 p.Ser151Phe

c.452C>T · rs921732950 · VCV2954799

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

AlphaMissense

likely pathogenic

0.9154 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.0031%, afr)

Missense predictors

1/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.9154	likely pathogenic
REVEL	0.125	moderately benign-leaning
SaProt	LLR -8.95	tolerated
⇒ AlphaMissense calls this damaging; REVEL and SaProt do not.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7	GERP 0.56, phastCons 1
Regional constraint	o/e 1.13	unconstrained · MANE · 47 kb · p 8.4e-05 · regional, not allelic
Overall
CADD	24.5	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0031% African / African-American · 2/64,530 alleles

Filtering AF 0.000809% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000633%

Overall 0.00135% 17/1,260,504 alleles · very rare

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	0.00547%	18,288
African / African-Americangrpmax	0.0031%	32,265
European (non-Finnish)	0.00139%	71,732

Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: CDK13
Protein: p.Ser151Phe
Coding: c.452C>T
MANE Select: NM_003718
dbSNP: rs921732950
Type: single nucleotide variant
Location: chr7:39951093 (GRCh38)
Gene constraint: LOEUF 0.434 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 50.59 · 2 PDB
Residue 151: the 'disordered' region

Full CDK13 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CDK13 p.Ser151Cys Uncertain significance ★ ⚠ same residue
CDK13 p.Ala1301Val Uncertain significance ★★ ⚠ same condition
CDK13 p.Ala134Val Uncertain significance ★★ ⚠ same condition
CDK13 p.Ala182Val Uncertain significance ★★ ⚠ same condition
CDK13 p.Ala331Val Uncertain significance ★★ ⚠ same condition
CDK13 p.Ala504Val Uncertain significance ★★ ⚠ same condition
CDK13 p.Ala970Val Uncertain significance ★★ ⚠ same condition
CDK13 p.Arg1366Cys Uncertain significance ★★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/cdk13-p-ser151phe (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown