H7R (p.His7Arg) variant of RPE65 (Retinoid isomerohydrolase)
H7R (p.His7Arg) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 20; Leber congenital amaurosis 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
H7R (p.His7Arg) variant details
- p.His7Arg
- rs2523458658
- ClinGen CA340750334
- ClinVar RCV002301339
- ClinVar RCV004817014
- Uncertain significance
- Retinitis pigmentosa 20; Leber congenital amaurosis 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- REVEL 0.71
- MetaLR 0.87
- MetaSVM 0.79
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 20; Leber congenital amaurosis 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)