G18V (p.Gly18Val) variant of RHO (Rhodopsin)
G18V (p.Gly18Val) 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 0.86 / 1. The record also includes structural context.
G18V (p.Gly18Val) variant details
- p.Gly18Val
- rs200946638
- ClinGen CA354495405
- ClinVar RCV001903209
- ExAC rs200946638
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- AlphaMissense 0.53
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available