L30R (p.Leu30Arg) variant of LCK (Tyrosine-protein kinase Lck)
L30R (p.Leu30Arg) in LCK (Tyrosine-protein kinase Lck) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L30R (p.Leu30Arg) variant details
- p.Leu30Arg
- ExAC rs749818114
- TOPMed rs749818114
- gnomAD rs749818114
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.36
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- LCK SH3 domain domainome 1.0: score -0.362