L6Q (p.Leu6Gln) variant of ABL1 (Tyrosine-protein kinase ABL1)
L6Q (p.Leu6Gln) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- gnomAD 9-130835463-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.52
- MetaLR 0.41
- MetaSVM -0.04
- CADD 21.70
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available