Is BLID p.Val97Gly (c.290T>G) pathogenic?

BLID p.Val97Gly (c.290T>G) is classified Uncertain significance in BLID (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-28). AlphaMissense: likely benign (0.2157); Absent from gnomAD v4.1.

How common is BLID p.Val97Gly (c.290T>G) in the general population?

BLID p.Val97Gly (c.290T>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BLID p.Val97Gly (c.290T>G)?

AlphaMissense predicts likely benign (score 0.2157) — an in-silico prediction, not a clinical call.

BLID p.Val97Gly

c.290T>G · VCV3260985

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.2157 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.2157	likely benign
REVEL	0.043	moderately benign-leaning
SaProt	LLR -6.36	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Pangolin	Δ0.41	gain · loss 0.00 · not in the SpliceAI release · independent
Constraint at this position
Conservation	phyloP -0.58	GERP -0.96
Regional constraint	o/e 1.06	unconstrained · MANE · 323 bp · p 0.47 · regional, not allelic
Overall
CADD	16.68	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: BLID
Protein: p.Val97Gly
Coding: c.290T>G
MANE Select: NM_001001786
Type: single nucleotide variant
Location: chr11:122115633 (GRCh38)
Gene constraint: LOEUF 1.885 · pLI 0.17 (gnomAD)
Structure: AlphaFold pLDDT 50.81

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

Similar variants

BLID p.Ala41Ser Uncertain significance ★ ⚠ same type
BLID p.Ala49Val Uncertain significance ★ ⚠ same type
BLID p.Arg31Gln Uncertain significance ★ ⚠ same type
BLID p.Arg44His Uncertain significance ★ ⚠ same type
BLID p.Asn54Lys Uncertain significance ★ ⚠ same type
BLID p.Asn54Ser Uncertain significance ★ ⚠ same type
BLID p.Cys101Arg Uncertain significance ★ ⚠ same type
BLID p.His13Tyr 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/blid-p-val97gly (accessed [today's date]).

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