F72S (p.Phe72Ser) variant of RPE65 (Retinoid isomerohydrolase)
F72S (p.Phe72Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F72S (p.Phe72Ser) variant details
- p.Phe72Ser
- rs1553153597
- ClinGen CA340748948
- ClinVar RCV000553292
- ClinVar RCV002287424
- Conflicting interpretations
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.95
- MetaLR 0.93
- MetaSVM 1.08
- CADD 29.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)