S28N (p.Ser28Asn) variant of RP2 (Protein XRP2)
S28N (p.Ser28Asn) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD X-46837183-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.48
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available