R44P (p.Arg44Pro) variant of RPE65 (Retinoid isomerohydrolase)
R44P (p.Arg44Pro) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Leber congenital amaurosis 2; Retinitis pigmentosa 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R44P (p.Arg44Pro) variant details
- p.Arg44Pro
- rs61751282
- ClinGen CA340749207
- ClinVar RCV003088739
- 1000Genomes rs61751282
- Pathogenic
- Leber congenital amaurosis 2; Retinitis pigmentosa 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.929
- REVEL 0.99
- MetaLR 0.98
- MetaSVM 1.07
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Leber congenital amaurosis 2; Retinitis pigmentosa 20)
- EBI: Pathogenic (in LCA2)
- UniProt: Pathogenic (in LCA2)
- Most common in the African/African-American population (allele frequency 3e-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)