G16A (p.Gly16Ala) variant of ABL1 (Tyrosine-protein kinase ABL1)
G16A (p.Gly16Ala) 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.
G16A (p.Gly16Ala) variant details
- p.Gly16Ala
- rs766734270
- gnomAD 9-130714399-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- MetaLR 0.53
- MetaSVM -0.23
- CADD 26.20
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available