Q12H (p.Gln12His) variant of PINK1 (Q9BXM7)
Q12H (p.Gln12His) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q12H (p.Gln12His) variant details
- p.Gln12His
- gnomAD 1-20633584-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.15
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available