R33Q (p.Arg33Gln) variant of PINK1 (Q9BXM7)
R33Q (p.Arg33Gln) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- gnomAD 1-20633646-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.11
- CADD 17.90
- PolyPhen-2 0.06
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available