C11Y (p.Cys11Tyr) variant of ABL1 (Tyrosine-protein kinase ABL1)
C11Y (p.Cys11Tyr) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
C11Y (p.Cys11Tyr) variant details
- p.Cys11Tyr
- gnomAD rs1402615247
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.62
- MetaLR 0.38
- MetaSVM -0.18
- CADD 21.50
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available