A61T (p.Ala61Thr) variant of PARK7 (Parkinson disease protein 7)
A61T (p.Ala61Thr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A61T (p.Ala61Thr) variant details
- p.Ala61Thr
- ExAC rs761582953
- gnomAD rs761582953
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.39
- CADD 29.20
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available