I17L (p.Ile17Leu) variant of LCK (Tyrosine-protein kinase Lck)
I17L (p.Ile17Leu) in LCK (Tyrosine-protein kinase Lck) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I17L (p.Ile17Leu) variant details
- p.Ile17Leu
- rs1398786002
- gnomAD 1-32274253-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.483
- CADD 5.15
- Population evidence available
- Structural context available
- LCK SH3 domain domainome 1.0: score 0.228
- Literature evidence available