RBP3 p.Trp211Ter
c.633G>A · VCV3249602
Pathogenic
No assertion criteria
Classification
Pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
inherited retinal dystrophy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function; NMD-escape possible for C-terminal truncations |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 40.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
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.Trp211Ter
- Coding
- c.633G>A
- MANE Select
- NM_005225 · reported on NM_002900
- Type
- single nucleotide variant
- Location
- chr10:47349117 (GRCh38)
- Structure
- AlphaFold pLDDT 63.40 · 8 PDB
- Residue 211
- an α-helix; the 'required for interaction with trim28' region; the 'dimerization' region
Similar variants
- RBP3 p.Trp211Gly 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-trp211ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown