K7N (p.Lys7Asn) variant of RP2 (Protein XRP2)
K7N (p.Lys7Asn) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K7N (p.Lys7Asn) variant details
- p.Lys7Asn
- gnomAD X-46837121-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.38
- CADD 25.50
- PolyPhen-2 0.84
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available