M34T (p.Met34Thr) variant of GJB2 (Gap junction beta-2 protein)
M34T (p.Met34Thr) 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 Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
M34T (p.Met34Thr) variant details
- p.Met34Thr
- rs35887622
- ClinGen CA172206
- ClinVar RCV000018523
- ClinVar RCV000080364
- Pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.70
- AlphaMissense 0.44
- MetaLR 0.84
- MetaSVM 0.76
- CADD 20.90
- PolyPhen-2 0.04
- ClinVar: Pathogenic (Hearing loss, autosomal recessive)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the HGDP:RUSSIAN population (allele frequency 0.04)
- Structural context available
- Cited in: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. (PMID 10878670)
- Cited in: Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2… (PMID 10903123)