S13P (p.Ser13Pro) variant of ABL1 (Tyrosine-protein kinase ABL1)
S13P (p.Ser13Pro) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S13P (p.Ser13Pro) variant details
- p.Ser13Pro
- TOPMed rs1228311670
- gnomAD rs1228311670
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.41
- MetaLR 0.30
- MetaSVM -0.33
- CADD 22.10
- PolyPhen-2 0.97
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available