L2W (p.Leu2Trp) variant of ABL1 (Tyrosine-protein kinase ABL1)
L2W (p.Leu2Trp) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L2W (p.Leu2Trp) variant details
- p.Leu2Trp
- gnomAD 9-130835451-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.33
- MetaLR 0.21
- MetaSVM -0.76
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available