R9L (p.Arg9Leu) variant of RP2 (Protein XRP2)
R9L (p.Arg9Leu) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R9L (p.Arg9Leu) variant details
- p.Arg9Leu
- TOPMed rs1351349465
- gnomAD rs1351349465
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.26
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available