K47R (p.Lys47Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
K47R (p.Lys47Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- Ensembl rs1754130830
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.50
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.50
- PolyPhen-2 0.26
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available