S24L (p.Ser24Leu) variant of ITK (Tyrosine-protein kinase ITK/TSK)
S24L (p.Ser24Leu) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S24L (p.Ser24Leu) variant details
- p.Ser24Leu
- Ensembl rs1753502417
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 21.00
- PolyPhen-2 0.07
- SIFT 0.74
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available