S71N (p.Ser71Asn) variant of ITK (Tyrosine-protein kinase ITK/TSK)
S71N (p.Ser71Asn) 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 0.19 / 1. The record also includes population frequency data and structural context.
S71N (p.Ser71Asn) variant details
- p.Ser71Asn
- rs1386860362
- ClinGen CA361947956
- ClinVar RCV001306117
- TOPMed rs1386860362
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 9.55
- PolyPhen-2 0.19
- SIFT 0.55
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available