G16E (p.Gly16Glu) variant of ABL1 (Tyrosine-protein kinase ABL1)
G16E (p.Gly16Glu) in ABL1 (Tyrosine-protein kinase ABL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- rs766734270
- gnomAD 9-130714399-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- MetaLR 0.56
- MetaSVM 0.11
- CADD 27.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available