N8I (p.Asn8Ile) variant of PRKN (O60260)
N8I (p.Asn8Ile) in PRKN (O60260) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
N8I (p.Asn8Ile) variant details
- p.Asn8Ile
- ExAC rs748110477
- TOPMed rs748110477
- gnomAD rs748110477
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.75
- MetaLR 0.90
- MetaSVM 1.00
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.053