A38G (p.Ala38Gly) variant of PINK1 (Q9BXM7)
A38G (p.Ala38Gly) 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.
A38G (p.Ala38Gly) variant details
- p.Ala38Gly
- gnomAD 1-20633661-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- CADD 20.50
- PolyPhen-2 0.03
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available