F70V (p.Phe70Val) variant of RPE65 (Retinoid isomerohydrolase)
F70V (p.Phe70Val) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Leber congenital amaurosis 2; Retinal dystrophy; Leber congenital amaurosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
F70V (p.Phe70Val) variant details
- p.Phe70Val
- rs1645945392
- ClinGen CA340748974
- ClinVar RCV003466254
- ClinVar RCV004818348
- Conflicting interpretations
- Leber congenital amaurosis 2; Retinal dystrophy; Leber congenital amaurosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.94
- MetaLR 0.91
- MetaSVM 0.95
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Leber congenital amaurosis 2; Retinal dystrophy; Leber congenita)
- EBI: Pathogenic (in LCA2 and RP20)
- UniProt: Pathogenic (in LCA2 and RP20)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PMID 17724218)
- Cited in: Next-generation genetic testing for retinitis pigmentosa. (PMID 22334370)