I23N (p.Ile23Asn) variant of PRKN (O60260)
I23N (p.Ile23Asn) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
I23N (p.Ile23Asn) variant details
- p.Ile23Asn
- rs199859147
- ClinGen CA366477388
- ClinVar RCV000819694
- 1000Genomes rs199859147
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.91
- MetaLR 0.64
- MetaSVM 0.46
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.51
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Parkin (PRKN) cellular abundance: score -0.0135