L6V (p.Leu6Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
L6V (p.Leu6Val) 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.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- gnomAD 5-157180993-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.30
- PolyPhen-2 0.18
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available