S28G (p.Ser28Gly) variant of RP2 (Protein XRP2)
S28G (p.Ser28Gly) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S28G (p.Ser28Gly) variant details
- p.Ser28Gly
- gnomAD X-46837182-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.52
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available