N52S (p.Asn52Ser) variant of PRKN (O60260)
N52S (p.Asn52Ser) in PRKN (O60260) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N52S (p.Asn52Ser) variant details
- p.Asn52Ser
- ExAC rs776644079
- gnomAD rs776644079
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.28
- MetaLR 0.36
- MetaSVM -0.28
- CADD 23.00
- PolyPhen-2 0.46
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0183