A2S (p.Ala2Ser) variant of PARK7 (Parkinson disease protein 7)
A2S (p.Ala2Ser) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 1-7962789-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.33
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available