T18S (p.Thr18Ser) variant of GJB2 (Gap junction beta-2 protein)
T18S (p.Thr18Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes structural context.
T18S (p.Thr18Ser) variant details
- p.Thr18Ser
- rs1566529035
- ClinGen CA387462150
- ClinVar RCV000711352
- Ensembl rs1566529035
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- AlphaMissense 0.80
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.89
- SIFT 0.01
- EVE 0.48
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available