BRPF1 p.Glu359=
c.1077G>A · rs2471471793 · VCV2653485
Likely benign
Single submitter
Classification
Likely benign
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.3 | GERP 1.9, phastCons 1 |
| Overall | ||
| CADD | 7.813 | 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
- BRPF1
- Protein
- p.Glu359=
- Coding
- c.1077G>A
- MANE Select
- NM_001003694
- dbSNP
- rs2471471793
- Type
- single nucleotide variant
- Location
- chr3:9739476 (GRCh38)
- Gene constraint
- LOEUF 0.205 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 68.74 · 66 PDB
- Residue 359
- a UniProt-annotated variant site (in idddfp)
Similar variants
- BRPF1 p.Arg1100Ter Pathogenic/Likely pathogenic ★★ same type
- BRPF1 p.Arg251Ter Pathogenic ★★ same type
- BRPF1 p.Arg455Ter Pathogenic ★★ same type
- BRPF1 p.Trp478Ter Pathogenic/Likely pathogenic ★★ same type
- BRPF1 p.Ala363Thr Uncertain significance ★★ ⚠ same type
- BRPF1 p.Ala601Thr Uncertain significance ★★ ⚠ same type
- BRPF1 p.Arg106Cys Uncertain significance ★★ ⚠ same type
- BRPF1 p.Arg157His 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/brpf1-p-glu359 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown