R20H (p.Arg20His) variant of PINK1 (Q9BXM7)
R20H (p.Arg20His) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R20H (p.Arg20His) variant details
- p.Arg20His
- gnomAD 1-20633607-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.29
- CADD 24.30
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 6.9e-05)
- Structural context available
- Literature evidence available