S30N (p.Ser30Asn) variant of KIT (P10721)
S30N (p.Ser30Asn) in KIT (P10721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- TOPMed rs926559231
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available