L17S (p.Leu17Ser) variant of ABL1 (Tyrosine-protein kinase ABL1)
L17S (p.Leu17Ser) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L17S (p.Leu17Ser) variant details
- p.Leu17Ser
- gnomAD 9-130714369-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.27
- MetaSVM -0.65
- CADD 25.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available