Q549H (p.Gln549His) variant of KIT (P10721)
Q549H (p.Gln549His) in KIT (P10721) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Piebaldism. The record also includes structural context.
Q549H (p.Gln549His) variant details
- p.Gln549His
- Ensembl rs2109774682
- Likely pathogenic
- Piebaldism
- Missense
- ClinVar: Likely pathogenic (Piebaldism)
- UniProt: Likely pathogenic
- Structural context available