S19L (p.Ser19Leu) variant of ABL1 (Tyrosine-protein kinase ABL1)
S19L (p.Ser19Leu) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- gnomAD rs866428555
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.37
- MetaLR 0.37
- MetaSVM -0.31
- CADD 21.40
- PolyPhen-2 0.97
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available