K7E (p.Lys7Glu) variant of RP2 (Protein XRP2)
K7E (p.Lys7Glu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- gnomAD X-46837119-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.47
- CADD 26.60
- PolyPhen-2 0.65
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available