C46G (p.Cys46Gly) variant of PARK7 (Parkinson disease protein 7)
C46G (p.Cys46Gly) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
C46G (p.Cys46Gly) variant details
- p.Cys46Gly
- gnomAD 1-7965369-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.60
- MetaLR 0.35
- MetaSVM -0.56
- CADD 26.20
- PolyPhen-2 0.96
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available