S18P (p.Ser18Pro) variant of ABL1 (Tyrosine-protein kinase ABL1)
S18P (p.Ser18Pro) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
S18P (p.Ser18Pro) variant details
- p.Ser18Pro
- gnomAD 9-130835498-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.31
- MetaLR 0.32
- MetaSVM -0.46
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available