N819I (p.Asn819Ile) variant of KIT (P10721)
N819I (p.Asn819Ile) in KIT (P10721) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Cutaneous mastocytosis. The record also includes structural context.
N819I (p.Asn819Ile) variant details
- p.Asn819Ile
- Ensembl rs2109801803
- Pathogenic
- Cutaneous mastocytosis
- Missense
- ClinVar: Pathogenic (Cutaneous mastocytosis)
- UniProt: Pathogenic
- Structural context available