C23R (p.Cys23Arg) variant of ABL1 (Tyrosine-protein kinase ABL1)
C23R (p.Cys23Arg) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C23R (p.Cys23Arg) variant details
- p.Cys23Arg
- rs756814023
- gnomAD 9-130714434-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.46
- MetaSVM -0.29
- CADD 29.50
- SIFT 0.01
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available