G104V (p.Gly104Val) variant of RPE65 (Retinoid isomerohydrolase)
G104V (p.Gly104Val) 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 0.91 / 1. The record also includes published literature and structural context.
G104V (p.Gly104Val) variant details
- p.Gly104Val
- rs61752875
- ClinGen CA226542
- ClinVar RCV000085193
- ClinVar RCV001588914
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- MutPred 0.91
- ClinVar: Likely pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: 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)