R21P (p.Arg21Pro) variant of RHO (Rhodopsin)
R21P (p.Arg21Pro) in RHO (Rhodopsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
R21P (p.Arg21Pro) variant details
- p.Arg21Pro
- rs552455660
- ClinGen CA354495457
- ClinVar RCV002843392
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.41
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available