V3M (p.Val3Met) variant of PINK1 (Q9BXM7)
V3M (p.Val3Met) 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.
V3M (p.Val3Met) variant details
- p.Val3Met
- gnomAD 1-20633555-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available