C23F (p.Cys23Phe) variant of ABL1 (Tyrosine-protein kinase ABL1)
C23F (p.Cys23Phe) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
C23F (p.Cys23Phe) variant details
- p.Cys23Phe
- gnomAD 9-130835514-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.41
- MetaLR 0.16
- MetaSVM -0.86
- CADD 21.40
- PolyPhen-2 0.55
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available