TAF1 p.Pro610=
c.1830C>T · VCV3672860
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00296%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.74 | GERP -4.5, phastCons 0.006 |
| Overall | ||
| CADD | 6.505 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00296%
East Asian · 1/33,824 alleles
Overall
9.11e-05%
1/1,097,946 alleles · very rare
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
- TAF1
- Protein
- p.Pro610=
- Coding
- c.1830C>T
- MANE Select
- NM_004606
- Type
- single nucleotide variant
- Location
- chrX:71383047 (GRCh38)
- Structure
- AlphaFold pLDDT 62.62 · 65 PDB
- Residue 610
- the 'histone acetyltransferase (hat)' region
Similar variants
- 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
- TAF1 c.1774-3T>C 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/taf1-p-pro610 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown