W44S (p.Trp44Ser) variant of GJB2 (Gap junction beta-2 protein)
W44S (p.Trp44Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
W44S (p.Trp44Ser) variant details
- p.Trp44Ser
- rs104894413
- ClinGen CA257682
- ClinVar RCV000018559
- ClinVar RCV006362024
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.972
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Structural context available
- Cited in: Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. (PMID 12668604)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)