Is ANKRD44 p.Ala950Val (c.2849C>T) pathogenic?

ANKRD44 p.Ala950Val (c.2849C>T) is classified Uncertain significance in ANKRD44 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-19). AlphaMissense: ambiguous (0.5554); Ultra-rare (popmax 0.0195%, eas).

How common is ANKRD44 p.Ala950Val (c.2849C>T) in the general population?

ANKRD44 p.Ala950Val (c.2849C>T) is ultra-rare (popmax 0.0195%, eas) (gnomAD).

What do computational predictors say about ANKRD44 p.Ala950Val (c.2849C>T)?

AlphaMissense predicts ambiguous (score 0.5554) — an in-silico prediction, not a clinical call.

ANKRD44 p.Ala950Val

c.2849C>T · rs908514972 · VCV2361665

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.5554 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0195%, eas)

Computational evidence

Protein change
AlphaMissense	0.5554	ambiguous
REVEL	0.371	indeterminate
SaProt	LLR -8.10	tolerated
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 2, phastCons 1
Regional constraint	o/e 0.82	unconstrained · MANE · 321 kb · p 8.9e-11 · regional, not allelic
Overall
CADD	30.0	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 0.0195% East Asian · 8/40,942 alleles

Filtering AF 0.00967% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00704%

Overall 0.00168% 26/1,550,778 alleles · ultra-rare exomes 21/1,398,598 · genomes 5/152,180 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.0195%	5,118
Admixed American	0.00981%	10,197
South Asian	0.00357%	28,022
Remaining individualsnot grpmax-eligible	0.00166%	60,226
African / African-American	0.00137%	73,026
European (non-Finnish)	0.000697%	143,377

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: ANKRD44
Protein: p.Ala950Val
Coding: c.2849C>T
MANE Select: NM_001195144
dbSNP: rs908514972
Type: single nucleotide variant
Location: chr2:196993657 (GRCh38)
Gene constraint: LOEUF 0.365 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 90.57

Full ANKRD44 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ANKRD44 c.1317-1308T>C Likely pathogenic ★ same type
ANKRD44 p.Ala164Thr Uncertain significance ★ ⚠ same type
ANKRD44 p.Ala180Thr Uncertain significance ★ ⚠ same type
ANKRD44 p.Ala242Val Uncertain significance ★ ⚠ same type
ANKRD44 p.Ala246Val Uncertain significance ★ ⚠ same type
ANKRD44 p.Ala2Gly Uncertain significance ★ ⚠ same type
ANKRD44 p.Ala462Ser Uncertain significance ★ ⚠ same type
ANKRD44 p.Ala478Thr 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/ankrd44-p-ala950val (accessed [today's date]).

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