K15T (p.Lys15Thr) variant of GJB2 (Gap junction beta-2 protein)
K15T (p.Lys15Thr) 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 Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
K15T (p.Lys15Thr) variant details
- p.Lys15Thr
- rs111033217
- ClinGen CA261649
- ClinVar RCV000037855
- ClinVar RCV000211780
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystrix-like, with he
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.73
- MetaLR 0.92
- MetaSVM 0.95
- CADD 24.90
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Mutilating keratoderma; Ichthyosis, hystr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)