A36C (p.Ala36Cys) variant of PARK7 (Parkinson disease protein 7)
A36C (p.Ala36Cys) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A36C (p.Ala36Cys) variant details
- p.Ala36Cys
- rs781600849
- gnomAD 1-7965336-G-GT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.10
- Population evidence available
- Structural context available
- Literature evidence available