P111S (p.Pro111Ser) variant of RPE65 (Retinoid isomerohydrolase)
P111S (p.Pro111Ser) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RPE65-related recessive retinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
P111S (p.Pro111Ser) variant details
- p.Pro111Ser
- rs886042220
- ClinGen CA10603953
- ClinVar RCV000288725
- ClinVar RCV002519096
- Pathogenic
- RPE65-related recessive retinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- MetaLR 0.93
- MetaSVM 1.07
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (RPE65-related recessive retinopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-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)