D50N (p.Asp50Asn) variant of GJB6 (Gap junction beta-6 protein)
D50N (p.Asp50Asn) in GJB6 (Gap junction beta-6 protein) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions and structural context.
D50N (p.Asp50Asn) variant details
- p.Asp50Asn
- Ensembl rs1869351345
- Likely pathogenic
- Missense
- MetaLR 0.90
- MetaSVM 0.69
- SIFT 0.03
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available