P73Q (p.Pro73Gln) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P73Q (p.Pro73Gln) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
P73Q (p.Pro73Gln) variant details
- p.Pro73Gln
- ExAC rs780078290
- gnomAD rs780078290
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.65
- ESM-1b 1.00
- AlphaMissense 0.69
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available