D87V (p.Asp87Val) variant of RPE65 (Retinoid isomerohydrolase)
D87V (p.Asp87Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D87V (p.Asp87Val) variant details
- p.Asp87Val
- gnomAD rs1645931040
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.07
- CADD 32.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available