I20M (p.Ile20Met) variant of GJB2 (Gap junction beta-2 protein)
I20M (p.Ile20Met) 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; Autosomal recessive nonsyndromic he. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
I20M (p.Ile20Met) variant details
- p.Ile20Met
- rs749693224
- ClinGen CA6904326
- ClinVar RCV000505534
- ClinVar RCV001857232
- Pathogenic/Likely pathogenic
- Ichthyosis, hystrix-like, with hearing loss; Autosomal recessive nonsyndromic he
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.60
- MetaLR 0.93
- MetaSVM 0.71
- CADD 19.90
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Ichthyosis, hystrix-like, with hearing loss; Autosomal recessive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)