P73L (p.Pro73Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P73L (p.Pro73Leu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- ExAC rs780078290
- gnomAD rs780078290
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.67
- ESM-1b 1.00
- AlphaMissense 0.57
- CADD 25.60
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available