K13E (p.Lys13Glu) variant of RP2 (Protein XRP2)
K13E (p.Lys13Glu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- gnomAD X-46837137-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.26
- CADD 16.60
- PolyPhen-2 0.03
- SIFT 0.86
- Population evidence available
- Structural context available
- Literature evidence available