Q80P (p.Gln80Pro) variant of GJB2 (Gap junction beta-2 protein)
Q80P (p.Gln80Pro) 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; not provided; Nonsyndromic genetic hearing loss. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
Q80P (p.Gln80Pro) variant details
- p.Gln80Pro
- rs727504302
- ClinGen CA273446
- ClinVar RCV000154345
- ClinVar RCV000505508
- Pathogenic/Likely pathogenic
- Rare genetic deafness; not provided; Nonsyndromic genetic hearing loss
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- REVEL 1.00
- AlphaMissense 0.98
- MetaLR 0.98
- MetaSVM 1.03
- CADD 27.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; not provided; Nonsyndromic genetic hearin)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss. (PMID 20301449)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)