T186M (p.Thr186Met) variant of GJB2 (Gap junction beta-2 protein)
T186M (p.Thr186Met) 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 Autosomal dominant nonsyndromic hearing loss 3A; Ichthyosis, hystrix-like, with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T186M (p.Thr186Met) variant details
- p.Thr186Met
- rs753674300
- ClinGen CA6904238
- ClinVar RCV001112458
- ClinVar RCV001112459
- Uncertain significance
- Autosomal dominant nonsyndromic hearing loss 3A; Ichthyosis, hystrix-like, with
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.95
- AlphaMissense 0.52
- MetaLR 0.95
- MetaSVM 1.08
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Autosomal dominant nonsyndromic hearing loss 3A; Ichthyosis, hys)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)