I82M (p.Ile82Met) variant of GJB2 (Gap junction beta-2 protein)
I82M (p.Ile82Met) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Ichthyosis, hystrix-like, with hearing loss; Knuckle pads, deafness AND leukonyc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I82M (p.Ile82Met) variant details
- p.Ile82Met
- rs781534323
- ClinGen CA273919
- ClinVar RCV000169070
- ClinVar RCV001207124
- Pathogenic/Likely pathogenic
- Ichthyosis, hystrix-like, with hearing loss; Knuckle pads, deafness AND leukonyc
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.93
- MetaLR 0.98
- MetaSVM 1.07
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ichthyosis, hystrix-like, with hearing loss; Knuckle pads, deafn)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)