V37L (p.Val37Leu) variant of GJB6 (Gap junction beta-6 protein)
V37L (p.Val37Leu) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in ECTD2.
V37L (p.Val37Leu) variant details
- p.Val37Leu
- ExAC rs761985641
- TOPMed rs761985641
- gnomAD rs761985641
- Uncertain significance
- in ECTD2
- Missense
- EBI: Variant of uncertain significance (in ECTD2)
- UniProt: Uncertain significance (in ECTD2)