K69E (p.Lys69Glu) variant of RPE65 (Retinoid isomerohydrolase)
K69E (p.Lys69Glu) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
K69E (p.Lys69Glu) variant details
- p.Lys69Glu
- gnomAD rs1343988525
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.83
- MetaLR 0.89
- MetaSVM 0.98
- CADD 27.90
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available