N2S (p.Asn2Ser) variant of ITK (Tyrosine-protein kinase ITK/TSK)
N2S (p.Asn2Ser) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD rs1378999585
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.33
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available