S28R (p.Ser28Arg) variant of RP2 (Protein XRP2)
S28R (p.Ser28Arg) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD X-46837184-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.62
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available