Is BLID p.Val64Glu (c.191T>A) pathogenic?

BLID p.Val64Glu (c.191T>A) is classified Uncertain significance in BLID (ClinVar, Single submitter, 1 submitter; last evaluated 2023-12-17). AlphaMissense: likely benign (0.192); Ultra-rare (popmax 0.0417%, sas).

How common is BLID p.Val64Glu (c.191T>A) in the general population?

BLID p.Val64Glu (c.191T>A) is ultra-rare (popmax 0.0417%, sas) (gnomAD).

What do computational predictors say about BLID p.Val64Glu (c.191T>A)?

AlphaMissense predicts likely benign (score 0.192) — an in-silico prediction, not a clinical call.

BLID p.Val64Glu

c.191T>A · rs756859038 · VCV3134120

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.192 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0417%, sas)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.192	likely benign
REVEL	0.11	moderately benign-leaning
SaProt	LLR -6.71	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 -0.052	GERP -1.4
Regional constraint	o/e 1.06	unconstrained · MANE · 323 bp · p 0.47 · regional, not allelic
Overall
CADD	14.73	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

Grpmax group 0.0417% South Asian · 38/91,084 alleles

Filtering AF 0.0312% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0275%

Overall 0.00341% 55/1,614,030 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0417%	2,397
Remaining individualsnot grpmax-eligible	0.0032%	31,242
European (non-Finnish)	0.00127%	78,666

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: BLID
Protein: p.Val64Glu
Coding: c.191T>A
MANE Select: NM_001001786
dbSNP: rs756859038
Type: single nucleotide variant
Location: chr11:122115732 (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-val64glu (accessed [today's date]).

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