A38S (p.Ala38Ser) variant of PINK1 (Q9BXM7)
A38S (p.Ala38Ser) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A38S (p.Ala38Ser) variant details
- p.Ala38Ser
- gnomAD 1-20633660-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.15
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available