Q80K (p.Gln80Lys) variant of GJB2 (Gap junction beta-2 protein)
Q80K (p.Gln80Lys) 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 not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
Q80K (p.Gln80Lys) variant details
- p.Gln80Lys
- rs199883710
- ClinGen CA387461563
- ClinVar RCV001379119
- ClinVar RCV005438075
- Likely pathogenic
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.918
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.03
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: GJB2 mutations: passage through Iran. (PMID 15666300)
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)