I20T (p.Ile20Thr) variant of GJB2 (Gap junction beta-2 protein)
I20T (p.Ile20Thr) 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 Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi. 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.
I20T (p.Ile20Thr) variant details
- p.Ile20Thr
- rs1057517519
- ClinGen CA16041595
- ClinVar RCV000410601
- ClinVar RCV000411693
- Pathogenic
- Nonsyndromic genetic hearing loss; not provided; Autosomal recessive nonsyndromi
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.93
- MetaLR 0.97
- MetaSVM 1.10
- CADD 26.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Nonsyndromic genetic hearing loss; not provided; Autosomal reces)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)