F70S (p.Phe70Ser) variant of RPE65 (Retinoid isomerohydrolase)
F70S (p.Phe70Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
F70S (p.Phe70Ser) variant details
- p.Phe70Ser
- rs1645945363
- ClinGen CA340748969
- ClinVar RCV001268583
- ClinVar RCV005225342
- Likely pathogenic
- Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- MutPred 0.88
- ClinVar: Likely pathogenic (Retinitis pigmentosa 20; Leber congenital amaurosis 2; not provi)
- EBI: Likely pathogenic (in LCA2 and RP20)
- UniProt: Likely pathogenic (in LCA2 and RP20)
- 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)