T8M (p.Thr8Met) variant of GJB2 (Gap junction beta-2 protein)
T8M (p.Thr8Met) 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 Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- rs529500747
- ClinGen CA6904332
- cosmic curated COSV67010
- ClinVar RCV000429597
- Uncertain significance
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.63
- MetaLR 0.91
- MetaSVM 0.70
- CADD 16.50
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Uncertain significance (Nonsyndromic genetic hearing loss)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)