A179V (p.Ala179Val) variant of RPE65 (Retinoid isomerohydrolase)
A179V (p.Ala179Val) 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 0.88 / 1. The record also includes published literature and structural context.
A179V (p.Ala179Val) variant details
- p.Ala179Val
- rs1645898265
- ClinGen CA340747151
- ClinVar RCV001238369
- ClinVar RCV003770275
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- MutPred 0.88
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)