S28C (p.Ser28Cys) variant of RP2 (Protein XRP2)
S28C (p.Ser28Cys) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S28C (p.Ser28Cys) variant details
- p.Ser28Cys
- gnomAD X-46837182-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.67
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available