K53Q (p.Lys53Gln) variant of LRRK2 (Q5S007)
K53Q (p.Lys53Gln) in LRRK2 (Q5S007) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- gnomAD 12-40225557-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 27.70
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available