C23Y (p.Cys23Tyr) variant of ABL1 (Tyrosine-protein kinase ABL1)
C23Y (p.Cys23Tyr) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- rs2132661885
- gnomAD 9-130714435-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- MetaLR 0.44
- MetaSVM -0.47
- CADD 28.70
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available