R118H (p.Arg118His) variant of RP2 (Protein XRP2)
R118H (p.Arg118His) in RP2 (Protein XRP2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Retinal dystrophy; not provided; Retinitis pigmentosa 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R118H (p.Arg118His) variant details
- p.Arg118His
- rs28933687
- ClinGen CA255301
- ClinVar RCV000011292
- ClinVar RCV001075110
- Pathogenic/Likely pathogenic
- Retinal dystrophy; not provided; Retinitis pigmentosa 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.03
- CADD 27.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Retinal dystrophy; not provided; Retinitis pigmentosa 2)
- EBI: Pathogenic (in RP2)
- UniProt: Pathogenic (in RP2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this… (PMID 10090907)
- Cited in: Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). (PMID 10520237)