A415V (p.Ala415Val) variant of RPE65 (Retinoid isomerohydrolase)
A415V (p.Ala415Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, 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 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A415V (p.Ala415Val) variant details
- p.Ala415Val
- rs1064795255
- ClinGen CA16617183
- ClinVar RCV000483168
- ClinVar RCV003766693
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.78
- MetaLR 0.88
- MetaSVM 0.88
- CADD 30.00
- PolyPhen-2 0.76
- SIFT 0.00
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Autosomal Recessive RPE65-Related Retinal Degeneration. (PMID 31725251)