RBP3 p.Ala830=
c.2490C>T · rs201066117 · VCV751460
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.234%, eas)
Conditions
1
inherited retinal dystrophy
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 -20 | GERP -3 |
| Overall | ||
| CADD | 0.114 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.234%
East Asian · 105/44,882 alleles
Filtering AF
0.198%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.184%
Overall
0.00868%
140/1,612,282 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.234% | 427 |
| Remaining individualsnot grpmax-eligible | 0.008% | 12,493 |
| Admixed American | 0.00333% | 30,005 |
| African / African-American | 0.00266% | 37,530 |
| European (non-Finnish) | 0.00212% | 47,200 |
| South Asian | 0.0011% | 91,056 |
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
- RBP3
- Protein
- p.Ala830=
- Coding
- c.2490C>T
- MANE Select
- NM_005225 · reported on NM_002900
- dbSNP
- rs201066117
- Type
- single nucleotide variant
- Location
- chr10:47350974 (GRCh38)
- Structure
- AlphaFold pLDDT 63.40 · 8 PDB
Similar variants
- RBP3 p.Ala830Thr Uncertain significance ★★ ⚠ same residue
- RBP3 p.Gln141Ter Pathogenic/Likely pathogenic ★★ same condition
- RBP3 p.Glu149Ter Pathogenic ★★ same condition
- RBP3 p.Ala263Ser Uncertain significance ★★ ⚠ same condition
- RBP3 p.Ala325Thr Uncertain significance ★★ ⚠ same condition
- RBP3 p.Ala546Val Uncertain significance ★★ same condition
- RBP3 p.Ala570Val Uncertain significance ★★ same condition
- RBP3 p.Ala803Thr Uncertain significance ★★ ⚠ same condition
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/rbp3-p-ala830 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown