P12R (p.Pro12Arg) variant of RHO (Rhodopsin)
P12R (p.Pro12Arg) 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 0.91 / 1. The record also includes structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- rs1198077854
- ClinGen CA354495267
- ClinVar RCV001339625
- gnomAD rs1198077854
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 0.70
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available