A2T (p.Ala2Thr) variant of PARK7 (Parkinson disease protein 7)
A2T (p.Ala2Thr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD 1-7962789-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.30
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available