R4P (p.Arg4Pro) variant of PINK1 (Q9BXM7)
R4P (p.Arg4Pro) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- gnomAD 1-20633559-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.40
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available