A13D (p.Ala13Asp) variant of RB1 (P06400)
A13D (p.Ala13Asp) in RB1 (P06400) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A13D (p.Ala13Asp) variant details
- p.Ala13Asp
- Ensembl rs2138027251
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.11
- MetaLR 0.49
- MetaSVM -0.50
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available