A88G (p.Ala88Gly) variant of GJB2 (Gap junction beta-2 protein)
A88G (p.Ala88Gly) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Aut. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A88G (p.Ala88Gly) variant details
- p.Ala88Gly
- rs1555341945
- ClinGen CA387461516
- ClinVar RCV000673680
- TOPMed rs1555341945
- Likely pathogenic
- not provided; Autosomal dominant keratitis-ichthyosis-hearing loss syndrome; Aut
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- AlphaMissense 0.71
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.26
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- 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)