R32L (p.Arg32Leu) variant of RP2 (Protein XRP2)
R32L (p.Arg32Leu) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R32L (p.Arg32Leu) variant details
- p.Arg32Leu
- rs781872752
- ClinGen CA10394171
- ClinVar RCV003842172
- ExAC rs781872752
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.68
- CADD 29.30
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available