A39T (p.Ala39Thr) variant of ITK (Tyrosine-protein kinase ITK/TSK)
A39T (p.Ala39Thr) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A39T (p.Ala39Thr) variant details
- p.Ala39Thr
- rs140064341
- gnomAD 5-157181092-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available