P36R (p.Pro36Arg) variant of PINK1 (Q9BXM7)
P36R (p.Pro36Arg) in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P36R (p.Pro36Arg) variant details
- p.Pro36Arg
- gnomAD 1-20633652-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available