T86R (p.Thr86Arg) variant of GJB2 (Gap junction beta-2 protein)
T86R (p.Thr86Arg) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Autoso. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
T86R (p.Thr86Arg) variant details
- p.Thr86Arg
- rs1291519904
- ClinGen CA387461527
- ClinVar RCV000778387
- ClinVar RCV001374648
- Pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Autoso
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.06
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Autosomal recessive nonsyndromic hearing loss 1A; Mutilating ker)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- Cited in: GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation. (PMID 12560944)
- Cited in: Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes… (PMID 15700112)