K48T (p.Lys48Thr) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K48T (p.Lys48Thr) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K48T (p.Lys48Thr) variant details
- p.Lys48Thr
- gnomAD 5-157208893-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.32
- CADD 25.60
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available