A39S (p.Ala39Ser) variant of PARK7 (Parkinson disease protein 7)
A39S (p.Ala39Ser) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- rs137853051
- ClinGen CA254098
- ClinVar RCV000007485
- UniProt VAR 072589
- Pathogenic
- Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- AlphaMissense 0.08
- MetaLR 0.13
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.74
- EVE 0.09
- ClinVar: Pathogenic (Parkinson disease, autosomal recessive early-onset, digenic, PIN)
- EBI: Pathogenic (found in early-onset Parkinson disease with digenic inheritance)
- UniProt: Pathogenic (found in early-onset Parkinson disease with digenic inheritance)
- Structural context available
- Cited in: Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease. (PMID 16632486)
- Cited in: Parkinson's disease-related DJ-1 functions in thiol quality control against aldehyde attack in vitro. (PMID 28993701)