C5F (p.Cys5Phe) variant of ABL1 (Tyrosine-protein kinase ABL1)
C5F (p.Cys5Phe) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C5F (p.Cys5Phe) variant details
- p.Cys5Phe
- gnomAD 9-130835460-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.35
- MetaLR 0.18
- MetaSVM -0.85
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available