S18G (p.Ser18Gly) variant of ABL1 (Tyrosine-protein kinase ABL1)
S18G (p.Ser18Gly) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S18G (p.Ser18Gly) variant details
- p.Ser18Gly
- rs1406577029
- gnomAD 9-130714365-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- MetaLR 0.30
- MetaSVM -0.42
- CADD 24.50
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available