G46V (p.Gly46Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
G46V (p.Gly46Val) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G46V (p.Gly46Val) variant details
- p.Gly46Val
- gnomAD rs1164561019
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available