Is CDK14 p.Pro61= (c.183C>T) pathogenic?

CDK14 p.Pro61= (c.183C>T) is classified Benign in CDK14 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-01-30). Low-frequency (popmax 1.22%, afr).

How common is CDK14 p.Pro61= (c.183C>T) in the general population?

CDK14 p.Pro61= (c.183C>T) is low-frequency (popmax 1.22%, afr) (gnomAD).

CDK14 p.Pro61=

c.183C>T · rs144891494 · VCV722842

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.22%, afr)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.8	GERP 6, phastCons 1
Overall
CADD	11.4	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.22% African / African-American · 915/74,984 alleles

Filtering AF 1.15% ClinGen BA1/BS1 input FAF95, joint · FAF99 1.13%

Overall 0.0635% 1,024/1,613,674 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	1.22%	82
Remaining individualsnot grpmax-eligible	0.088%	1,136
Admixed American	0.0717%	1,394
Middle Eastern	0.033%	3,029
South Asian	0.0022%	45,535
European (non-Finnish)	0.000593%	168,535

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: CDK14
Protein: p.Pro61=
Coding: c.183C>T
MANE Select: NM_001287135
dbSNP: rs144891494
Type: single nucleotide variant
Location: chr7:90726626 (GRCh38)
Gene constraint: LOEUF 0.894 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 71.10

Full CDK14 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CDK14 c.124-16986G>A Uncertain significance ★ same type
CDK14 c.124-17003A>G Uncertain significance ★ same type
CDK14 c.124-17015A>T Uncertain significance ★ same type
CDK14 p.Ala382Val Uncertain significance ★ ⚠ same type
CDK14 p.Arg117Trp Uncertain significance ★ ⚠ same type
CDK14 p.Arg250His Uncertain significance ★ ⚠ same type
CDK14 p.Arg370Cys Uncertain significance ★ ⚠ same type
CDK14 p.Arg370Ser Uncertain significance ★ ⚠ same type

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/cdk14-p-pro61 (accessed [today's date]).

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