N2N (p.Asn2Asn) variant of ITK (Tyrosine-protein kinase ITK/TSK)
N2N (p.Asn2Asn) in ITK (Tyrosine-protein kinase ITK/TSK) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N2N (p.Asn2Asn) variant details
- p.Asn2Asn
- rs764145653
- gnomAD 5-157180983-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.368
- CADD 11.20
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available