N8T (p.Asn8Thr) variant of PRKN (O60260)
N8T (p.Asn8Thr) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N8T (p.Asn8Thr) variant details
- p.Asn8Thr
- ExAC rs748110477
- TOPMed rs748110477
- gnomAD rs748110477
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.64
- MetaLR 0.87
- MetaSVM 0.96
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.053