P79A (p.Pro79Ala) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P79A (p.Pro79Ala) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
P79A (p.Pro79Ala) variant details
- p.Pro79Ala
- gnomAD 5-157208985-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available