I33T (p.Ile33Thr) variant of GJB2 (Gap junction beta-2 protein)
I33T (p.Ile33Thr) 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 Monogenic hearing loss; Ichthyosis, hystrix-like, with hearing loss; Autosomal d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
I33T (p.Ile33Thr) variant details
- p.Ile33Thr
- rs575453513
- ClinGen CA246460935
- ClinVar RCV003062565
- ClinVar RCV004690348
- Pathogenic/Likely pathogenic
- Monogenic hearing loss; Ichthyosis, hystrix-like, with hearing loss; Autosomal d
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.94
- MetaLR 0.98
- MetaSVM 1.05
- CADD 25.20
- PolyPhen-2 0.68
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Monogenic hearing loss; Ichthyosis, hystrix-like, with hearing l)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)