N819K (p.Asn819Lys) variant of KIT (P10721)
N819K (p.Asn819Lys) in KIT (P10721) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Gastrointestinal stromal tumor. The record also includes structural context.
N819K (p.Asn819Lys) variant details
- p.Asn819Lys
- Ensembl rs2109801814
- Pathogenic/Likely pathogenic
- not provided; Gastrointestinal stromal tumor
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Gastrointestinal stromal tumor)
- UniProt: Likely pathogenic
- Structural context available