K34R (p.Lys34Arg) variant of RP2 (Protein XRP2)
K34R (p.Lys34Arg) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- gnomAD X-46837201-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.31
- CADD 25.10
- PolyPhen-2 0.03
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available