R21C (p.Arg21Cys) variant of RHO (Rhodopsin)
R21C (p.Arg21Cys) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
R21C (p.Arg21Cys) variant details
- p.Arg21Cys
- TOPMed rs1451320951
- gnomAD rs1451320951
- Uncertain significance
- Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.95
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Retinitis pigmentosa 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available