A36T (p.Ala36Thr) variant of PARK7 (Parkinson disease protein 7)
A36T (p.Ala36Thr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- gnomAD 1-7965339-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.66
- MetaLR 0.71
- MetaSVM 0.65
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available