A11V (p.Ala11Val) variant of PARK7 (Parkinson disease protein 7)
A11V (p.Ala11Val) 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.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- gnomAD 1-7962817-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.65
- CADD 28.10
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available