V50A (p.Val50Ala) variant of RP2 (Protein XRP2)
V50A (p.Val50Ala) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- gnomAD rs1556318536
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.69
- CADD 22.30
- PolyPhen-2 0.21
- SIFT 0.09
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available