R8I (p.Arg8Ile) variant of RP2 (Protein XRP2)
R8I (p.Arg8Ile) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R8I (p.Arg8Ile) variant details
- p.Arg8Ile
- gnomAD X-46837123-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.26
- CADD 17.60
- PolyPhen-2 0.03
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available