R5S (p.Arg5Ser) variant of KIT (P10721)
R5S (p.Arg5Ser) in KIT (P10721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R5S (p.Arg5Ser) variant details
- p.Arg5Ser
- Ensembl rs1716939221
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available