H180Q (p.His180Gln) variant of RPE65 (Retinoid isomerohydrolase)
H180Q (p.His180Gln) in RPE65 (Retinoid isomerohydrolase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Leber congenital amaurosis; Leber congenital amaurosis 2; Retinitis pigmentosa 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
H180Q (p.His180Gln) variant details
- p.His180Gln
- rs2100821857
- ClinVar RCV004586291
- ClinVar RCV005038731
- Likely pathogenic
- Leber congenital amaurosis; Leber congenital amaurosis 2; Retinitis pigmentosa 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 1.09
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Leber congenital amaurosis; Leber congenital amaurosis 2; Retini)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)