K53* (p.Lys53Ter) variant of LRRK2 (Q5S007)
K53* (p.Lys53Ter) in LRRK2 (Q5S007) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K53* (p.Lys53Ter) variant details
- p.Lys53Ter
- TOPMed rs1173807591
- gnomAD rs1173807591
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 37.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available