V240F (p.Val240Phe) variant of RPE65 (Retinoid isomerohydrolase)
V240F (p.Val240Phe) 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 87 with choroidal involvement; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
V240F (p.Val240Phe) variant details
- p.Val240Phe
- rs192907397
- ClinGen CA902422
- ClinVar RCV000754973
- ClinVar RCV001244442
- Likely pathogenic
- Retinitis pigmentosa 87 with choroidal involvement; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.46
- MetaLR 0.72
- MetaSVM 0.25
- CADD 22.70
- PolyPhen-2 0.08
- SIFT 0.11
- ClinVar: Likely pathogenic (Retinitis pigmentosa 87 with choroidal involvement; Leber congen)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)