E21K (p.Glu21Lys) variant of RP2 (Protein XRP2)
E21K (p.Glu21Lys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- gnomAD X-46837161-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.20
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available