I17R (p.Ile17Arg) variant of LCK (Tyrosine-protein kinase Lck)
I17R (p.Ile17Arg) in LCK (Tyrosine-protein kinase Lck) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I17R (p.Ile17Arg) variant details
- p.Ile17Arg
- gnomAD 1-32274377-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.58
- CADD 29.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- LCK SH3 domain domainome 1.0: score 0.228
- Literature evidence available