L26P (p.Leu26Pro) variant of RPE65 (Retinoid isomerohydrolase)
L26P (p.Leu26Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
L26P (p.Leu26Pro) variant details
- p.Leu26Pro
- ExAC rs766996940
- gnomAD rs766996940
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.63
- MetaLR 0.76
- MetaSVM 0.57
- CADD 25.40
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available