R21C (p.Arg21Cys) variant of RBM10 (RNA-binding protein 10)
R21C (p.Arg21Cys) in RBM10 (RNA-binding protein 10) is a missense change. Clinical records from ClinVar 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 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- cosmic curated COSV10966
- ExAC rs782165166
- TOPMed rs782165166
- gnomAD rs782165166
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.14
- CADD 27.70
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RBM10 Zinc finger, RanBP2-type domain domainome 1.0: score -0.926