P34A (p.Pro34Ala) variant of PINK1 (Q9BXM7)
P34A (p.Pro34Ala) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P34A (p.Pro34Ala) variant details
- p.Pro34Ala
- gnomAD 1-20633648-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.05
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available