K13R (p.Lys13Arg) variant of RP2 (Protein XRP2)
K13R (p.Lys13Arg) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K13R (p.Lys13Arg) variant details
- p.Lys13Arg
- gnomAD X-46837138-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.46
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available