Q31Q (p.Gln31Gln) variant of RP2 (Protein XRP2)
Q31Q (p.Gln31Gln) in RP2 (Protein XRP2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
Q31Q (p.Gln31Gln) variant details
- p.Gln31Gln
- rs1556313543
- gnomAD X-46837193-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 12.80
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available