D66H (p.Asp66His) variant of GJB2 (Gap junction beta-2 protein)
D66H (p.Asp66His) 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 Hearing loss; Mutilating keratoderma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
D66H (p.Asp66His) variant details
- p.Asp66His
- rs104894403
- ClinGen CA127024
- ClinVar RCV000018536
- ClinVar RCV000678871
- Pathogenic
- Hearing loss; Mutilating keratoderma
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.79
- MetaLR 0.98
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.32
- ClinVar: Pathogenic (Hearing loss; Mutilating keratoderma)
- EBI: Pathogenic (in VOWNKL and PPKDFN)
- UniProt: Pathogenic (in VOWNKL and PPKDFN)
- Structural context available
- Cited in: A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's… (PMID 10369869)
- Cited in: Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. (PMID 10757647)