Y29C (p.Tyr29Cys) variant of RHO (Rhodopsin)
Y29C (p.Tyr29Cys) 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 0.93 / 1. The record also includes structural context.
Y29C (p.Tyr29Cys) variant details
- p.Tyr29Cys
- rs2084756646
- ClinGen CA354495615
- ClinVar RCV001227379
- Ensembl rs2084756646
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.932
- AlphaMissense 0.88
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available