A39G (p.Ala39Gly) variant of ITK (Tyrosine-protein kinase ITK/TSK)
A39G (p.Ala39Gly) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- gnomAD 5-157181093-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.20
- CADD 23.50
- PolyPhen-2 0.30
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available