A37E (p.Ala37Glu) variant of PINK1 (Q9BXM7)
A37E (p.Ala37Glu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
A37E (p.Ala37Glu) variant details
- p.Ala37Glu
- gnomAD 1-20633658-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.17
- CADD 12.90
- PolyPhen-2 0.05
- SIFT 0.81
- Population evidence available
- Structural context available
- Literature evidence available