S18T (p.Ser18Thr) variant of ABL1 (Tyrosine-protein kinase ABL1)
S18T (p.Ser18Thr) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- rs1831408977
- gnomAD 9-130714366-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- MetaLR 0.31
- MetaSVM -0.57
- CADD 24.10
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available