Q31H (p.Gln31His) variant of RP2 (Protein XRP2)
Q31H (p.Gln31His) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q31H (p.Gln31His) variant details
- p.Gln31His
- gnomAD rs1556313543
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available