V37E (p.Val37Glu) variant of GJB6 (Gap junction beta-6 protein)
V37E (p.Val37Glu) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hidrotic ectodermal dysplasia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and published literature.
V37E (p.Val37Glu) variant details
- p.Val37Glu
- rs104894416
- ClinGen CA253530
- ClinVar RCV000005886
- UniProt VAR 016838
- Pathogenic
- Hidrotic ectodermal dysplasia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hidrotic ectodermal dysplasia syndrome)
- EBI: Pathogenic (in ECTD2)
- UniProt: Pathogenic (in ECTD2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: A novel connexin 30 mutation in Clouston syndrome. (PMID 11874494)
- Cited in: Mutations in GJB6 cause hidrotic ectodermal dysplasia. (PMID 11017065)