S54T (p.Ser54Thr) variant of ITK (Tyrosine-protein kinase ITK/TSK)
S54T (p.Ser54Thr) 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 0.44 / 1. The record also includes population frequency data and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- rs752258747
- ClinGen CA3532649
- ClinVar RCV002741560
- ExAC rs752258747
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.20
- PolyPhen-2 0.67
- SIFT 0.11
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available