F31I (p.Phe31Ile) variant of ITK (Tyrosine-protein kinase ITK/TSK)
F31I (p.Phe31Ile) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
F31I (p.Phe31Ile) variant details
- p.Phe31Ile
- gnomAD 5-157181068-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available