C12F (p.Cys12Phe) variant of KIT (P10721)
C12F (p.Cys12Phe) in KIT (P10721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C12F (p.Cys12Phe) variant details
- p.Cys12Phe
- Ensembl rs1716941861
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available