A51A (p.Ala51Ala) variant of LRRK2 (Q5S007)
A51A (p.Ala51Ala) in LRRK2 (Q5S007) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A51A (p.Ala51Ala) variant details
- p.Ala51Ala
- rs1336563950
- gnomAD 12-40225556-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.362
- CADD 20.20
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available