V77A (p.Val77Ala) variant of RPE65 (Retinoid isomerohydrolase)
V77A (p.Val77Ala) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V77A (p.Val77Ala) variant details
- p.Val77Ala
- Ensembl rs2100831151
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.91
- MetaLR 0.89
- MetaSVM 0.89
- CADD 27.60
- SIFT 0.01
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- UniProt: Uncertain significance
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available