I72M (p.Ile72Met) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I72M (p.Ile72Met) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
I72M (p.Ile72Met) variant details
- p.Ile72Met
- gnomAD 5-157208966-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.48
- ESM-1b 0.08
- AlphaMissense 0.31
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available