L49R (p.Leu49Arg) variant of RPE65 (Retinoid isomerohydrolase)
L49R (p.Leu49Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L49R (p.Leu49Arg) variant details
- p.Leu49Arg
- TOPMed rs1011553769
- gnomAD rs1011553769
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.70
- MetaLR 0.80
- MetaSVM 0.56
- CADD 24.50
- PolyPhen-2 0.86
- SIFT 0.32
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available