D46H (p.Asp46His) variant of GJB2 (Gap junction beta-2 protein)
D46H (p.Asp46His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
D46H (p.Asp46His) variant details
- p.Asp46His
- rs1064797088
- ClinGen CA387461847
- ClinVar RCV001806947
- Ensembl rs1064797088
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.94
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in DFNA3A)
- UniProt: Pathogenic (in DFNA3A)
- Structural context available