S71G (p.Ser71Gly) variant of ITK (Tyrosine-protein kinase ITK/TSK)
S71G (p.Ser71Gly) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S71G (p.Ser71Gly) variant details
- p.Ser71Gly
- gnomAD 5-157208961-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.40
- PolyPhen-2 0.13
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available