A28S (p.Ala28Ser) variant of PINK1 (Q9BXM7)
A28S (p.Ala28Ser) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- gnomAD 1-20633630-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0691
- REVEL 0.03
- CADD 0.64
- PolyPhen-2 0.02
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available