S22R (p.Ser22Arg) variant of RHO (Rhodopsin)
S22R (p.Ser22Arg) 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 published literature and structural context.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- rs749567084
- ClinGen CA354495476
- ClinVar RCV001265171
- ExAC rs749567084
- Uncertain significance
- Retinitis pigmentosa 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- AlphaMissense 0.92
- MetaLR 0.89
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.65
- ClinVar: Uncertain significance (Retinitis pigmentosa 4)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)