K47N (p.Lys47Asn) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K47N (p.Lys47Asn) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lymphoproliferative syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K47N (p.Lys47Asn) variant details
- p.Lys47Asn
- rs772972728
- ExAC rs772972728
- TOPMed rs772972728
- gnomAD rs772972728
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.50
- ESM-1b 0.27
- AlphaMissense 0.86
- CADD 23.90
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available