L88F (p.Leu88Phe) variant of ITK (Tyrosine-protein kinase ITK/TSK)
L88F (p.Leu88Phe) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L88F (p.Leu88Phe) variant details
- p.Leu88Phe
- gnomAD 5-157211305-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available