H73R (p.His73Arg) variant of GJB2 (Gap junction beta-2 protein)
H73R (p.His73Arg) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Palmoplantar keratoderma-deafness syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
H73R (p.His73Arg) variant details
- p.His73Arg
- rs121912968
- ClinGen CA127036
- ClinVar RCV000018565
- UniProt VAR 060799
- Pathogenic
- Palmoplantar keratoderma-deafness syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.978
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Palmoplantar keratoderma-deafness syndrome)
- EBI: Pathogenic (in PPKDFN)
- UniProt: Pathogenic (in PPKDFN)
- Structural context available
- Cited in: Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications… (PMID 10218527)
- Cited in: A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma… (PMID 17993581)