A39S (p.Ala39Ser) variant of ITK (Tyrosine-protein kinase ITK/TSK)
A39S (p.Ala39Ser) 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 0.40 / 1. The record also includes population frequency data and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- ESP rs140064341
- ExAC rs140064341
- TOPMed rs140064341
- gnomAD rs140064341
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 20.20
- PolyPhen-2 0.30
- SIFT 1.00
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available