A2E (p.Ala2Glu) variant of PINK1 (Q9BXM7)
A2E (p.Ala2Glu) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A2E (p.Ala2Glu) variant details
- p.Ala2Glu
- gnomAD 1-20633553-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.20
- CADD 23.90
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available