S38P (p.Ser38Pro) variant of KIT (P10721)
S38P (p.Ser38Pro) in KIT (P10721) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S38P (p.Ser38Pro) variant details
- p.Ser38Pro
- rs2109660694
- gnomAD 4-54695555-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available