S17C (p.Ser17Cys) variant of GJB2 (Gap junction beta-2 protein)
S17C (p.Ser17Cys) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- rs28929485
- ClinGen CA185218
- ClinVar RCV000156624
- Ensembl rs28929485
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in KIDAD)
- UniProt: Pathogenic (in KIDAD)
- Structural context available