RB1 p.His129Pro
c.384_386delinsTCC · VCV3943323
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.01 | GERP -1.6, phastCons 0.82 |
| Regional constraint | o/e 0.81 | unconstrained · MANE · 156 kb · p 9.1e-08 · regional, not allelic |
Variant & gene context
- Gene
- RB1
- Protein
- p.His129Pro
- Coding
- c.384_386delinsTCC
- MANE Select
- NM_000321
- Type
- Indel
- Location
- chr13:48345083 (GRCh38)
- Gene constraint
- LOEUF 0.239 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.03 · 19 PDB
- Residue 129
- an α-helix
Similar variants
- RB1 p.His129Gln Uncertain significance ★★ ⚠ same residue
- RB1 p.His129= Likely benign ★★ same residue
- RB1 p.His129Arg Likely benign ★ same residue
- RB1 p.Ala14Leu Uncertain significance ★★ same condition
- RB1 p.Ala59Pro Uncertain significance ★★ same condition
- RB1 p.Lys574Glu Uncertain significance ★★ same condition
- RB1 c.1047_1049+168delinsATCAATAA Pathogenic ★ same condition
- RB1 p.Arg358fs 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/rb1-p-his129pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown