R49S (p.Arg49Ser) variant of ITK (Tyrosine-protein kinase ITK/TSK)
R49S (p.Arg49Ser) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R49S (p.Arg49Ser) variant details
- p.Arg49Ser
- gnomAD 5-157208895-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.492
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.63
- CADD 22.10
- PolyPhen-2 0.31
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available