A39E (p.Ala39Glu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
A39E (p.Ala39Glu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- gnomAD 5-157181093-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.53
- ESM-1b 0.97
- AlphaMissense 0.43
- CADD 23.50
- PolyPhen-2 0.40
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available