RBP3 p.Ala243=
c.729G>A · rs201362886 · VCV750095
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0416%, amr)
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 -1.1 | GERP -3.3, phastCons 0.001 |
| Overall | ||
| CADD | 8.465 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0416%
Admixed American · 25/60,030 alleles
Filtering AF
0.0289%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0247%
Overall
0.00192%
31/1,613,520 alleles · ultra-rare
exomes 15/1,461,214 · genomes 16/152,306 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0416% | 2,401 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,504 |
| African / African-American | 0.00133% | 75,046 |
| South Asian | 0.0011% | 91,082 |
| European (non-Finnish) | 0.000254% | 393,340 |
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.Ala243=
- Coding
- c.729G>A
- MANE Select
- NM_002900
- dbSNP
- rs201362886
- Type
- single nucleotide variant
- Location
- chr10:47349213 (GRCh38)
- Structure
- AlphaFold pLDDT 63.40 · 8 PDB
- Residue 243
- an α-helix; the 'required for interaction with trim28' region; the 'dimerization' region
Similar variants
- RBP3 p.Ala243Thr Uncertain significance ★★ ⚠ same residue
- RBP3 p.Ala243Val Uncertain significance ★★ ⚠ same residue
- RBP3 p.Ala243fs Likely pathogenic ★ same residue
- RBP3 p.Arg388Ter Pathogenic ★★ same type
- RBP3 p.Gln141Ter Pathogenic/Likely pathogenic ★★ same type
- RBP3 p.Gln54Ter Pathogenic ★★ same type
- RBP3 p.Glu149Ter Pathogenic ★★ same type
- RBP3 p.Glu692Ter Pathogenic/Likely pathogenic ★★ 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/rbp3-p-ala243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown