R776W (p.Arg776Trp) variant of RBM10 (RNA-binding protein 10)
R776W (p.Arg776Trp) in RBM10 (RNA-binding protein 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R776W (p.Arg776Trp) variant details
- p.Arg776Trp
- rs1556782020
- ClinGen CA412807986
- NCI-TCGA Cosmic COSV6130
- cosmic curated COSV61307
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.20
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available