R52C (p.Arg52Cys) variant of RP2 (Protein XRP2)
R52C (p.Arg52Cys) in RP2 (Protein XRP2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R52C (p.Arg52Cys) variant details
- p.Arg52Cys
- NCI-TCGA Cosmic COSV5446
- TOPMed rs1924896260
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.85
- CADD 25.40
- PolyPhen-2 0.73
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available