R21H (p.Arg21His) variant of RHO (Rhodopsin)
R21H (p.Arg21His) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Retinitis pigmentosa; Congenital stationary night blindness autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R21H (p.Arg21His) variant details
- p.Arg21His
- rs552455660
- ClinGen CA2607052
- ClinVar RCV001145548
- ClinVar RCV001145549
- Conflicting interpretations
- not provided; Retinitis pigmentosa; Congenital stationary night blindness autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- REVEL 0.88
- AlphaMissense 0.41
- MetaLR 0.98
- MetaSVM 1.07
- CADD 27.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Retinitis pigmentosa; Congenital stationary night)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)