Is TAF2 p.Pro8Ala (c.22C>G) pathogenic?

TAF2 p.Pro8Ala (c.22C>G) is classified Uncertain significance in TAF2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-01-27). AlphaMissense: likely benign (0.0496); Absent from gnomAD v4.1.

How common is TAF2 p.Pro8Ala (c.22C>G) in the general population?

TAF2 p.Pro8Ala (c.22C>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about TAF2 p.Pro8Ala (c.22C>G)?

AlphaMissense predicts likely benign (score 0.0496) — an in-silico prediction, not a clinical call.

TAF2 p.Pro8Ala

c.22C>G · rs749383076 · VCV2014616

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0496 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0496	likely benign
REVEL	0.044	moderately benign-leaning
SaProt	LLR -5.14	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 5.5	GERP 1.9, phastCons 1
Regional constraint	o/e 0.74	unconstrained · MANE · 44 kb · p 1.2e-11 · regional, not allelic
Overall
CADD	22.3	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: TAF2
Protein: p.Pro8Ala
Coding: c.22C>G
MANE Select: NM_003184
dbSNP: rs749383076
Type: single nucleotide variant
Location: chr8:119832543 (GRCh38)
Gene constraint: LOEUF 0.551 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 74.09 · 29 PDB
Residue 8: the 'disordered' region; a UniProt-annotated variant site (in)

Full TAF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

TAF2 p.Ala244Val Uncertain significance ★★ ⚠ same type
TAF2 p.Arg1077Trp Uncertain significance ★★ ⚠ same type
TAF2 p.Arg1082Gln Uncertain significance ★★ ⚠ same type
TAF2 p.Arg1082Leu Uncertain significance ★★ ⚠ same type
TAF2 p.Arg1193Cys Uncertain significance ★★ ⚠ same type
TAF2 p.Arg1193His Uncertain significance ★★ ⚠ same type
TAF2 p.Arg795His Uncertain significance ★★ ⚠ same type
TAF2 p.Asn787Thr 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/taf2-p-pro8ala (accessed [today's date]).

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