S18C (p.Ser18Cys) variant of ABL1 (Tyrosine-protein kinase ABL1)
S18C (p.Ser18Cys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S18C (p.Ser18Cys) variant details
- p.Ser18Cys
- TOPMed rs1281390090
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- REVEL 0.40
- MetaLR 0.35
- MetaSVM -0.17
- CADD 21.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available