A14T (p.Ala14Thr) variant of PARK7 (Parkinson disease protein 7)
A14T (p.Ala14Thr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- ExAC rs761107607
- TOPMed rs761107607
- gnomAD rs761107607
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.06
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available