Is BID p.Arg88Ser (c.264G>C) pathogenic?

BID p.Arg88Ser (c.264G>C) is classified Uncertain significance in BID (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-08). AlphaMissense: ambiguous (0.3717); Absent from gnomAD v4.1.

How common is BID p.Arg88Ser (c.264G>C) in the general population?

BID p.Arg88Ser (c.264G>C) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about BID p.Arg88Ser (c.264G>C)?

AlphaMissense predicts ambiguous (score 0.3717) — an in-silico prediction, not a clinical call.

BID p.Arg88Ser

c.264G>C · VCV3480664

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.3717 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/2 damaging

REVEL, SaProt · AlphaMissense no call

Computational evidence

Protein change
AlphaMissense	0.3717	ambiguous
REVEL	0.085	moderately benign-leaning
SaProt	LLR -5.70	tolerated
⇒ REVEL and SaProt both call this tolerated; AlphaMissense makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.34	GERP 0.61
Regional constraint	o/e 0.88	unconstrained · MANE · 15 kb · p 0.061 · regional, not allelic
Overall
CADD	17.26	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

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: BID
Protein: p.Arg88Ser
Coding: c.264G>C
MANE Select: NM_001196
Type: single nucleotide variant
Location: chr22:17739448 (GRCh38)
Gene constraint: LOEUF 1.553 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 63.12 · 17 PDB
Residue 88: an α-helix

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

Similar variants

BID p.Arg88Lys Uncertain significance ★ ⚠ same residue
BID c.-14G>A Uncertain significance ★ same type
BID c.-15C>T Uncertain significance ★ same type
BID c.-23G>A Uncertain significance ★ same type
BID c.-24C>G Uncertain significance ★ same type
BID c.-33G>A Uncertain significance ★ same type
BID c.-39G>A Uncertain significance ★ same type
BID c.-59+698A>G 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/bid-p-arg88ser (accessed [today's date]).

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