V37M (p.Val37Met) variant of GJB6 (Gap junction beta-6 protein)
V37M (p.Val37Met) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hidrotic ectodermal dysplasia syndrome; Autosomal recessive nonsyndromic hearing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and published literature.
V37M (p.Val37Met) variant details
- p.Val37Met
- rs761985641
- ClinGen CA6904509
- NCI-TCGA Cosmic COSV5383
- cosmic curated COSV53833
- Uncertain significance
- Hidrotic ectodermal dysplasia syndrome; Autosomal recessive nonsyndromic hearing
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (Hidrotic ectodermal dysplasia syndrome; Autosomal recessive nons)
- EBI: Variant of uncertain significance (in ECTD2)
- UniProt: Uncertain significance (in ECTD2)
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)