G59S (p.Gly59Ser) variant of GJB2 (Gap junction beta-2 protein)
G59S (p.Gly59Ser) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Autosomal recessive nonsyndromic hearing loss 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
G59S (p.Gly59Ser) variant details
- p.Gly59Ser
- rs104894410
- ClinGen CA127035
- ClinVar RCV000018562
- ClinVar RCV001851915
- Conflicting interpretations
- not provided; Autosomal recessive nonsyndromic hearing loss 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.95
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Conflicting classifications of pathogenicity (not provided; Autosomal recessive nonsyndromic hearing loss 1A)
- EBI: Pathogenic (in BAPS)
- UniProt: Pathogenic (in BAPS)
- 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: G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. (PMID 15952212)