Is DAB1 p.Val71Ile (c.211G>A) pathogenic?

DAB1 p.Val71Ile (c.211G>A) is classified Benign in DAB1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-12-26). AlphaMissense: likely benign (0.0582); Low-frequency (popmax 2.69%, afr).

How common is DAB1 p.Val71Ile (c.211G>A) in the general population?

DAB1 p.Val71Ile (c.211G>A) is low-frequency (popmax 2.69%, afr) (gnomAD).

What do computational predictors say about DAB1 p.Val71Ile (c.211G>A)?

AlphaMissense predicts likely benign (score 0.0582) — an in-silico prediction, not a clinical call.

DAB1 p.Val71Ile

c.211G>A · rs1855377 · VCV771116

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

AlphaMissense

likely benign

0.0582 · ACMG-weighted

gnomAD v4.1

Rare

low-frequency (popmax 2.69%, afr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0582	likely benign
REVEL	0.045	moderately benign-leaning
SaProt	LLR -6.53	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 3.4	GERP 1.8, phastCons 1
Regional constraint	o/e 0.66	unconstrained · MANE · 119 kb · p 2.8e-08 · regional, not allelic
Overall
CADD	17.94	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 2.69% African / African-American · 1,950/72,490 alleles

Filtering AF 2.59% ClinGen BA1/BS1 input FAF95, joint · FAF99 2.55%

Overall 0.15% 2,263/1,511,466 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	2.69%	37
Admixed American	0.21%	476
Remaining individualsnot grpmax-eligible	0.175%	571
Middle Eastern	0.107%	935
South Asian	0.0105%	9,564
European (non-Finnish)	0.00745%	13,426
East Asian	0.0047%	21,294
Ashkenazi Jewishnot grpmax-eligible	0.00373%	26,844

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: DAB1
Protein: p.Val71Ile
Coding: c.211G>A
MANE Select: NM_001365792
dbSNP: rs1855377
Type: single nucleotide variant
Location: chr1:57136638 (GRCh38)
Gene constraint: LOEUF 0.407 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 59.20
Residue 71: the pid domain; a UniProt-annotated variant site (in)

Full DAB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

DAB1 p.Ala103Val Uncertain significance ★★ ⚠ same type
DAB1 p.Ala75Thr Uncertain significance ★★ same type
DAB1 p.Arg41Gln Uncertain significance ★★ same type
DAB1 p.Pro334Leu Uncertain significance ★★ ⚠ same type
DAB1 p.Pro376Ala Uncertain significance ★★ ⚠ same type
DAB1 p.Pro391Ser Uncertain significance ★★ ⚠ same type
DAB1 p.Pro516Leu Uncertain significance ★★ ⚠ same type
DAB1 p.Val240Leu 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/dab1-p-val71ile (accessed [today's date]).

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