Is EEIG1 p.Val44Ala (c.131T>C) pathogenic?

EEIG1 p.Val44Ala (c.131T>C) is classified Uncertain significance in EEIG1 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-07-06). AlphaMissense: likely benign (0.0819); Absent from gnomAD v4.1.

How common is EEIG1 p.Val44Ala (c.131T>C) in the general population?

EEIG1 p.Val44Ala (c.131T>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about EEIG1 p.Val44Ala (c.131T>C)?

AlphaMissense predicts likely benign (score 0.0819) — an in-silico prediction, not a clinical call.

EEIG1 p.Val44Ala

c.131T>C · rs1832098547 · VCV3087360

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0819 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0819	likely benign
REVEL	0.034	moderately benign-leaning
SaProt	LLR -5.61	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 7.9	GERP 1.1, phastCons 1
Regional constraint	o/e 0.62	unconstrained · MANE · 32 kb · p 1.9e-08 · regional, not allelic
Overall
CADD	21.0	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: EEIG1
Protein: p.Val44Ala
Coding: c.131T>C
MANE Select: NM_001035254
dbSNP: rs1832098547
Type: single nucleotide variant
Location: chr9:127980007 (GRCh38)
Structure: AlphaFold pLDDT 69.30
Residue 44: the c2 nt-type domain

Full EEIG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

EEIG1 p.Ala326Val Uncertain significance ★ ⚠ same type
EEIG1 p.Arg118His Uncertain significance ★ ⚠ same type
EEIG1 p.Arg194Gln Uncertain significance ★ ⚠ same type
EEIG1 p.Arg228Gly Uncertain significance ★ ⚠ same type
EEIG1 p.Arg248Cys Uncertain significance ★ ⚠ same type
EEIG1 p.Arg258His Uncertain significance ★ ⚠ same type
EEIG1 p.Arg259Gly Uncertain significance ★ ⚠ same type
EEIG1 p.Arg283Gln 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/eeig1-p-val44ala (accessed [today's date]).

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