N3S (p.Asn3Ser) variant of ITK (Tyrosine-protein kinase ITK/TSK)
N3S (p.Asn3Ser) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- gnomAD rs1287758453
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 22.70
- PolyPhen-2 0.90
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available