Is ANKRD1 p.Asp150Val (c.449A>T) pathogenic?

ANKRD1 p.Asp150Val (c.449A>T) is classified Conflicting classifications of pathogenicity in ANKRD1 (ClinVar, Conflicting submitters, 7 submitters; last evaluated 2026-01-12). AlphaMissense: likely pathogenic (0.9967); Rare (popmax 0.105%, afr); Associated with Cardiovascular phenotype.

What condition is associated with ANKRD1 p.Asp150Val (c.449A>T)?

ANKRD1 p.Asp150Val (c.449A>T) is associated with Cardiovascular phenotype (ClinVar).

How common is ANKRD1 p.Asp150Val (c.449A>T) in the general population?

ANKRD1 p.Asp150Val (c.449A>T) is rare (popmax 0.105%, afr) (gnomAD).

What do computational predictors say about ANKRD1 p.Asp150Val (c.449A>T)?

AlphaMissense predicts likely pathogenic (score 0.9967) — an in-silico prediction, not a clinical call.

ANKRD1 p.Asp150Val

c.449A>T · rs150266349 · VCV201673

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 7 submitters

AlphaMissense

likely pathogenic

0.9967 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.105%, afr)

Missense predictors

3/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
AlphaMissense	0.9967	likely pathogenic · top 1% in ANKRD1
REVEL	0.665	pathogenic-leaning
SaProt	LLR -14.36	damaging
⇒ AlphaMissense, REVEL and SaProt all call this damaging.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.9	GERP 2.3, phastCons 1
Regional constraint	o/e 0.93	unconstrained · MANE · 8,158 bp · p 0.17 · regional, not allelic
Overall
CADD	32.0	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 0.105% African / African-American · 78/74,426 alleles

Filtering AF 0.0861% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0791%

Overall 0.00528% 85/1,608,594 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.105%	954
Admixed American	0.005%	19,993
Remaining individualsnot grpmax-eligible	0.00481%	20,775
European (non-Finnish)	8.5e-05%	1,176,813

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: ANKRD1
Protein: p.Asp150Val
Coding: c.449A>T
MANE Select: NM_014391
dbSNP: rs150266349
Type: single nucleotide variant
Location: chr10:90918869 (GRCh38)
Gene constraint: LOEUF 1.038 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.64

Full ANKRD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANKRD1 p.Asp150Gly Uncertain significance ★★ ⚠ same residue
ANKRD1 p.Asp150= Likely benign ★★ same residue
ANKRD1 p.Asp150Glu Uncertain significance ★ ⚠ same residue
ANKRD1 c.207+1G>T Uncertain significance ★★ same condition
ANKRD1 c.27+1G>T Uncertain significance ★★ same condition
ANKRD1 c.28-3T>C Uncertain significance ★★ same condition
ANKRD1 c.651+4T>A Uncertain significance ★★ same condition
ANKRD1 c.750+2T>C 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/ankrd1-p-asp150val (accessed [today's date]).

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