L88I (p.Leu88Ile) variant of ITK (Tyrosine-protein kinase ITK/TSK)
L88I (p.Leu88Ile) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L88I (p.Leu88Ile) variant details
- p.Leu88Ile
- gnomAD 5-157211305-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 14.40
- PolyPhen-2 0.01
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available