R23L (p.Arg23Leu) variant of RP2 (Protein XRP2)
R23L (p.Arg23Leu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- gnomAD X-46837168-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.21
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available