K188R (p.Lys188Arg) variant of GJB2 (Gap junction beta-2 protein)
K188R (p.Lys188Arg) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
K188R (p.Lys188Arg) variant details
- p.Lys188Arg
- rs1131691709
- ClinGen CA387460893
- ClinVar RCV000493772
- ClinVar RCV001004776
- Likely pathogenic
- Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.02
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Nonsyndromic genetic hearing loss)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)