A61G (p.Ala61Gly) variant of PARK7 (Parkinson disease protein 7)
A61G (p.Ala61Gly) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
A61G (p.Ala61Gly) variant details
- p.Ala61Gly
- gnomAD 1-7965415-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.41
- MetaLR 0.49
- MetaSVM -0.23
- CADD 23.80
- PolyPhen-2 0.07
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available