A14A (p.Ala14Ala) variant of PARK7 (Parkinson disease protein 7)
A14A (p.Ala14Ala) in PARK7 (Parkinson disease protein 7) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A14A (p.Ala14Ala) variant details
- p.Ala14Ala
- rs1640237863
- gnomAD 1-7962827-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.76
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available