A2V (p.Ala2Val) variant of PINK1 (Q9BXM7)
A2V (p.Ala2Val) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 1-20633553-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available