A507V (p.Ala507Val) variant of RPE65 (Retinoid isomerohydrolase)
A507V (p.Ala507Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
A507V (p.Ala507Val) variant details
- p.Ala507Val
- TOPMed rs201449203
- gnomAD rs201449203
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.90
- MetaLR 0.98
- MetaSVM 1.07
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available