K52K (p.Lys52Lys) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K52K (p.Lys52Lys) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
K52K (p.Lys52Lys) variant details
- p.Lys52Lys
- rs1258351156
- gnomAD 5-157208906-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 8.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available