p.Arg20 Phe21insTer variant of PINK1 (Q9BXM7)
p.Arg20 Phe21insTer in PINK1 (Q9BXM7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
p.Arg20 Phe21insTer variant details
- rs2053013473
- gnomAD 1-20633591-C-CGAG
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.792
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available