R52H (p.Arg52His) variant of RP2 (Protein XRP2)
R52H (p.Arg52His) in RP2 (Protein XRP2) 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 0.79 / 1. The record also includes population frequency data and structural context.
R52H (p.Arg52His) variant details
- p.Arg52His
- rs782127844
- ClinGen CA10394186
- NCI-TCGA Cosmic COSV9950
- ClinVar RCV002007758
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.84
- CADD 26.60
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available