K122I (p.Lys122Ile) variant of GJB2 (Gap junction beta-2 protein)
K122I (p.Lys122Ile) 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; Inborn genetic diseases; Palmoplantar keratoderma-deafnes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
K122I (p.Lys122Ile) variant details
- p.Lys122Ile
- rs111033295
- ClinGen CA172230
- ClinVar RCV000037844
- ClinVar RCV000146021
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Inborn genetic diseases; Palmoplantar keratoderma-deafnes
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.85
- MetaLR 0.93
- MetaSVM 1.02
- CADD 24.90
- PolyPhen-2 0.90
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Inborn genetic diseases; Palmoplantar ker)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)