S28I (p.Ser28Ile) variant of RP2 (Protein XRP2)
S28I (p.Ser28Ile) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- gnomAD X-46837183-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.7
- REVEL 0.68
- CADD 28.60
- PolyPhen-2 0.95
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available