H45P (p.His45Pro) variant of ITK (Tyrosine-protein kinase ITK/TSK)
H45P (p.His45Pro) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H45P (p.His45Pro) variant details
- p.His45Pro
- gnomAD 5-157181111-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available