AFF4 p.His431=
c.1293C>T · rs1760462005 · VCV871554
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.323 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 1.2, phastCons 1 |
| Overall | ||
| CADD | 8.275 | PHRED · no single calibrated threshold — expert panels disagree |
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
- AFF4
- Protein
- p.His431=
- Coding
- c.1293C>T
- MANE Select
- NM_014423
- dbSNP
- rs1760462005
- Type
- single nucleotide variant
- Location
- chr5:132898326 (GRCh38)
- Gene constraint
- LOEUF 0.114 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 54.62 · 9 PDB
- Residue 431
- the 'disordered' region
Similar variants
- AFF4 p.Arg258Trp Pathogenic/Likely pathogenic ★★ ⚠ same type
- AFF4 p.Met260Val Likely pathogenic ★★ ⚠ same type
- AFF4 p.Pro253Leu Pathogenic/Likely pathogenic ★★ ⚠ same type
- AFF4 p.Thr254Ser Pathogenic/Likely pathogenic ★★ ⚠ same type
- AFF4 c.1133+3A>G Uncertain significance ★★ same type
- AFF4 p.Ala114Thr Uncertain significance ★★ ⚠ same type
- AFF4 p.Ala114Val Uncertain significance ★★ ⚠ same type
- AFF4 p.Ala27Thr 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/aff4-p-his431 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown