Y24C (p.Tyr24Cys) variant of ABL1 (Tyrosine-protein kinase ABL1)
Y24C (p.Tyr24Cys) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- gnomAD rs1489845439
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.48
- MetaLR 0.30
- MetaSVM -0.43
- CADD 22.10
- PolyPhen-2 0.99
- SIFT 0.14
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available