G59A (p.Gly59Ala) variant of GJB2 (Gap junction beta-2 protein)
G59A (p.Gly59Ala) 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 Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G59A (p.Gly59Ala) variant details
- p.Gly59Ala
- rs104894404
- ClinGen CA127026
- ClinVar RCV000018540
- UniProt VAR 009965
- Likely pathogenic
- Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.97
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.97
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in PPKDFN)
- UniProt: Pathogenic (in PPKDFN)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). (PMID 10633135)
- Cited in: Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. (PMID 12668604)