A6P (p.Ala6Pro) variant of PARK7 (Parkinson disease protein 7)
A6P (p.Ala6Pro) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- gnomAD 1-7962801-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available