G60C (p.Gly60Cys) variant of CNGA1 (P29973)
G60C (p.Gly60Cys) in CNGA1 (P29973) 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 0.31 / 1. The record also includes structural context.
G60C (p.Gly60Cys) variant details
- p.Gly60Cys
- rs757969694
- ClinGen CA356835227
- ClinVar RCV001241314
- Ensembl rs757969694
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.04
- PolyPhen-2 0.94
- SIFT 0.01
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available