A37R (p.Ala37Arg) variant of PINK1 (Q9BXM7)
A37R (p.Ala37Arg) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A37R (p.Ala37Arg) variant details
- p.Ala37Arg
- gnomAD 1-20633622-C-CCGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available