A37T (p.Ala37Thr) variant of PINK1 (Q9BXM7)
A37T (p.Ala37Thr) in PINK1 (Q9BXM7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- gnomAD 1-20633657-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.10
- CADD 17.00
- PolyPhen-2 0.05
- SIFT 0.57
- Population evidence available
- Structural context available
- Literature evidence available