A82T (p.Ala82Thr) variant of PRKN (O60260)
A82T (p.Ala82Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- TOPMed rs1186161188
- gnomAD rs1186161188
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.09
- MetaLR 0.21
- MetaSVM -0.81
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.999