A88V (p.Ala88Val) variant of GJB2 (Gap junction beta-2 protein)
A88V (p.Ala88Val) 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 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 structural context.
A88V (p.Ala88Val) variant details
- p.Ala88Val
- rs1555341945
- ClinGen CA387461514
- ClinVar RCV001949480
- ClinVar RCV004565138
- 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: Pathogenic (not provided; Autosomal dominant keratitis-ichthyosis-hearing lo)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available