D18N (p.Asp18Asn) variant of PRKN (O60260)
D18N (p.Asp18Asn) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- rs146288080
- ClinGen CA4090524
- ClinVar RCV001423716
- ClinVar RCV002509682
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.24
- MetaLR 0.16
- MetaSVM -0.93
- CADD 19.20
- PolyPhen-2 0.02
- SIFT 0.16
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PUR population (allele frequency 0.01)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.02