G53G (p.Gly53Gly) variant of ITK (Tyrosine-protein kinase ITK/TSK)
G53G (p.Gly53Gly) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G53G (p.Gly53Gly) variant details
- p.Gly53Gly
- rs1419185852
- gnomAD 5-157208909-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 7.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available