D86N (p.Asp86Asn) variant of PRKN (O60260)
D86N (p.Asp86Asn) in PRKN (O60260) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D86N (p.Asp86Asn) variant details
- p.Asp86Asn
- rs747891099
- NCI-TCGA Cosmic COSV5820
- cosmic curated COSV58207
- TOPMed rs747891099
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.14
- MetaLR 0.28
- MetaSVM -0.81
- CADD 4.99
- PolyPhen-2 0.00
- SIFT 0.58
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.995