A58P (p.Ala58Pro) variant of RP2 (Protein XRP2)
A58P (p.Ala58Pro) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A58P (p.Ala58Pro) variant details
- p.Ala58Pro
- gnomAD X-46853545-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.45
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available