Q12K (p.Gln12Lys) variant of PINK1 (Q9BXM7)
Q12K (p.Gln12Lys) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Q12K (p.Gln12Lys) variant details
- p.Gln12Lys
- gnomAD 1-20633582-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.11
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available