I65F (p.Ile65Phe) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I65F (p.Ile65Phe) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I65F (p.Ile65Phe) variant details
- p.Ile65Phe
- rs758696074
- ExAC rs758696074
- gnomAD rs758696074
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.27
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available