RBBP4 p.Val151=
c.453T>C · rs2762904 · VCV1263039
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 100%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.374 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 1.2 | GERP -2.7, phastCons 1 |
| Overall | ||
| CADD | 6.033 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
100%
East Asian · 44,846/44,846 alleles
Filtering AF
99.8%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 99.8%
Overall
99.5%
1,600,186/1,608,076 alleles · common
exomes 1,452,004/1,455,818 · genomes 148,182/152,258 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 100% | 1 |
| Finnishnot grpmax-eligible | 100% | 1 |
| Amishnot grpmax-eligible | 100% | 1 |
| South Asian | 100% | 1 |
| European (non-Finnish) | 100% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 99.9% | 1 |
| Middle Eastern | 99.8% | 1 |
| Remaining individualsnot grpmax-eligible | 99.3% | 1 |
| Admixed American | 99.3% | 1 |
| African / African-American | 90.9% | 1 |
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
- RBBP4
- Protein
- p.Val151=
- Coding
- c.453T>C
- MANE Select
- NM_005610
- dbSNP
- rs2762904
- Type
- single nucleotide variant
- Location
- chr1:32668367 (GRCh38)
- Gene constraint
- LOEUF 0.144 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 92.20 · 53 PDB
- Residue 151
- a β-strand
Similar variants
- RBBP4 c.1212+14A>C Benign ★★ same type
- RBBP4 p.Ala2Ser Uncertain significance ★ ⚠ same type
- RBBP4 p.Ala91Ser Uncertain significance ★ ⚠ same type
- RBBP4 p.Asn168Thr Uncertain significance ★ ⚠ same type
- RBBP4 p.Gln85His Uncertain significance ★ same type
- RBBP4 p.Ile115Phe Uncertain significance ★ ⚠ same type
- RBBP4 p.Ile139Val Uncertain significance ★ ⚠ same type
- RBBP4 p.Leu50Phe 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/rbbp4-p-val151 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown