S15R (p.Ser15Arg) variant of RP2 (Protein XRP2)
S15R (p.Ser15Arg) in RP2 (Protein XRP2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S15R (p.Ser15Arg) variant details
- p.Ser15Arg
- rs1556313474
- gnomAD X-46837142-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.367
- CADD 22.30
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available