T86M (p.Thr86Met) variant of GJB2 (Gap junction beta-2 protein)
T86M (p.Thr86Met) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
T86M (p.Thr86Met) variant details
- p.Thr86Met
- rs1291519904
- ClinGen CA387461528
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10124
- Conflicting interpretations
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.86
- MetaLR 0.98
- MetaSVM 1.08
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)