Is TAF1 p.Arg431His (c.1292G>A) pathogenic?

TAF1 p.Arg431His (c.1292G>A) is classified Uncertain significance in TAF1 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-04-02). AlphaMissense: ambiguous (0.4359); Absent from gnomAD v4.1.

How common is TAF1 p.Arg431His (c.1292G>A) in the general population?

TAF1 p.Arg431His (c.1292G>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about TAF1 p.Arg431His (c.1292G>A)?

AlphaMissense predicts ambiguous (score 0.4359) — an in-silico prediction, not a clinical call.

TAF1 p.Arg431His

c.1292G>A · rs2148243594 · VCV2442460

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

ambiguous

0.4359 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
AlphaMissense	0.4359	ambiguous
REVEL	0.172	moderately benign-leaning
SaProt	—	not scored · why
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 12	GERP 2.2, phastCons 1
Regional constraint	o/e 0.48	unconstrained · MANE · 11 kb · p 7e-27 · regional, not allelic
Overall
CADD	24.3	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.

⚠ Isoform check: AlphaMissense numbered on a different transcript (AM R430H vs ClinVar R431H) — verify the residue.

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: TAF1
Protein: p.Arg431His
Coding: c.1292G>A
MANE Select: NM_004606
dbSNP: rs2148243594
Type: single nucleotide variant
Location: chrX:71378963 (GRCh38)
Structure: AlphaFold pLDDT 62.62 · 65 PDB

Full TAF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TAF1 p.Arg431Cys Uncertain significance ★ ⚠ same residue
TAF1 p.Arg1062Cys Likely pathogenic ★★ ⚠ same type
TAF1 p.Arg1234Gln Pathogenic/Likely pathogenic ★★ same type
TAF1 p.Arg1432His Pathogenic ★★ same type
TAF1 p.Arg870Cys Pathogenic/Likely pathogenic ★★ same type
TAF1 p.Asn1497His Pathogenic/Likely pathogenic ★★ same type
TAF1 p.Ile1317Thr Pathogenic ★★ same type
TAF1 p.Phe403Val Pathogenic/Likely pathogenic ★★ 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/taf1-p-arg431his (accessed [today's date]).

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