V19M (p.Val19Met) variant of RPE65 (Retinoid isomerohydrolase)
V19M (p.Val19Met) 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 record also includes variant effect predictions, published literature, and structural context.
V19M (p.Val19Met) variant details
- p.Val19Met
- rs1645959896
- ClinGen CA340750220
- ClinVar RCV003805986
- ClinVar RCV004527467
- Likely pathogenic
- RPE65-related recessive retinopathy
- Missense
- MutPred 0.57
- 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)