K47K (p.Lys47Lys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K47K (p.Lys47Lys) in ITK (Tyrosine-protein kinase ITK/TSK) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
K47K (p.Lys47Lys) variant details
- p.Lys47Lys
- gnomAD 5-157208891-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 12.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available