N3D (p.Asn3Asp) variant of ITK (Tyrosine-protein kinase ITK/TSK)
N3D (p.Asn3Asp) 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.
N3D (p.Asn3Asp) variant details
- p.Asn3Asp
- ExAC rs776585958
- TOPMed rs776585958
- gnomAD rs776585958
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.60
- PolyPhen-2 0.90
- SIFT 0.43
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available