L48M (p.Leu48Met) variant of LCK (Tyrosine-protein kinase Lck)
L48M (p.Leu48Met) in LCK (Tyrosine-protein kinase Lck) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48M (p.Leu48Met) variant details
- p.Leu48Met
- gnomAD 1-32274773-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.08
- CADD 23.10
- PolyPhen-2 0.55
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available
- LCK SH3 domain domainome 1.0: score 0.0011
- Literature evidence available