A78T (p.Ala78Thr) variant of GJB2 (Gap junction beta-2 protein)
A78T (p.Ala78Thr) 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 not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
A78T (p.Ala78Thr) variant details
- p.Ala78Thr
- rs1959060696
- ClinGen CA387461574
- ClinVar RCV002051745
- ClinVar RCV003558849
- Pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- AlphaMissense 0.17
- MetaLR 0.94
- MetaSVM 1.00
- PolyPhen-2 0.24
- SIFT 0.07
- EVE 0.15
- ClinVar: Pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)