L28V (p.Leu28Val) variant of GJB2 (Gap junction beta-2 protein)
L28V (p.Leu28Val) 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 record also includes structural context.
L28V (p.Leu28Val) variant details
- p.Leu28Val
- rs2500253148
- ClinGen CA387462043
- ClinVar RCV003699682
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available