T50M (p.Thr50Met) variant of ITK (Tyrosine-protein kinase ITK/TSK)
T50M (p.Thr50Met) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T50M (p.Thr50Met) variant details
- p.Thr50Met
- rs774040719
- ClinGen CA3532646
- ClinVar RCV001068223
- ClinVar RCV005582528
- Uncertain significance
- Lymphoproliferative syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.25
- ESM-1b 0.81
- AlphaMissense 0.07
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)