RBP3 p.Ala239Val
c.716C>T · VCV3345160
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.5501 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
RBP3-related disorder
Computational evidence
| Protein change | ||
| AlphaMissense | 0.5501 | ambiguous |
|---|---|---|
| SaProt | LLR -14.11 | damaging |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 4.2 | GERP 0.6, phastCons 1 |
| Overall | ||
| CADD | 23.5 | PHRED · no single calibrated threshold — expert panels disagree |
AlphaMissense carries the ACMG weight for missense; SaProt is an independent agreement signal.
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
- RBP3
- Protein
- p.Ala239Val
- Coding
- c.716C>T
- MANE Select
- NM_002900
- Type
- single nucleotide variant
- Location
- chr10:47349200 (GRCh38)
- Structure
- AlphaFold pLDDT 63.40 · 8 PDB
- Residue 239
- an α-helix; the 'required for interaction with trim28' region; the 'dimerization' region
Disease context
RBP3-related disorder
Similar variants
- RBP3 p.Ala239= Likely benign ★★ same residue
- RBP3 p.Arg388Ter Pathogenic ★★ same condition
- RBP3 p.Gln141Ter Pathogenic/Likely pathogenic ★★ same condition
- RBP3 p.Glu692Ter Pathogenic/Likely pathogenic ★★ same condition
- RBP3 p.Tyr784Ter Pathogenic/Likely pathogenic ★★ same condition
- RBP3 p.Tyr841Ter Pathogenic/Likely pathogenic ★★ same condition
- RBP3 c.3055-2A>G Likely pathogenic ★ same condition
- RBP3 p.Gln742Ter Likely pathogenic ★ 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-ala239val (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown