R8K (p.Arg8Lys) variant of RP2 (Protein XRP2)
R8K (p.Arg8Lys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R8K (p.Arg8Lys) variant details
- p.Arg8Lys
- gnomAD X-46837123-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.21
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available