L8Q (p.Leu8Gln) variant of ABL1 (Tyrosine-protein kinase ABL1)
L8Q (p.Leu8Gln) 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.
L8Q (p.Leu8Gln) variant details
- p.Leu8Gln
- gnomAD 9-130835469-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.52
- MetaLR 0.41
- MetaSVM -0.09
- CADD 21.90
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available