C431F (p.Cys431Phe) variant of PRKN (O60260)
C431F (p.Cys431Phe) in PRKN (O60260) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autosomal recessive juvenile Parkinson disease 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes experimental measurements, published literature, and structural context.
C431F (p.Cys431Phe) variant details
- p.Cys431Phe
- rs397514694
- ClinGen CA263212
- ClinVar RCV000043509
- UniProt VAR 019765
- Pathogenic
- Autosomal recessive juvenile Parkinson disease 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (Autosomal recessive juvenile Parkinson disease 2)
- EBI: Pathogenic (in PARK2)
- UniProt: Pathogenic (in PARK2)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.838
- Cited in: Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive… (PMID 10939576)
- Cited in: Parkin mono-ubiquitinates Bcl-2 and regulates autophagy. (PMID 20889974)