S58F (p.Ser58Phe) variant of ITK (Tyrosine-protein kinase ITK/TSK)
S58F (p.Ser58Phe) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S58F (p.Ser58Phe) variant details
- p.Ser58Phe
- gnomAD 5-157208923-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available