R52S (p.Arg52Ser) variant of RP2 (Protein XRP2)
R52S (p.Arg52Ser) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R52S (p.Arg52Ser) variant details
- p.Arg52Ser
- gnomAD X-46853527-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.88
- CADD 24.60
- PolyPhen-2 0.82
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available