A56T (p.Ala56Thr) variant of PARK7 (Parkinson disease protein 7)
A56T (p.Ala56Thr) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Autosomal recessive early-onset Parkinson disease 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A56T (p.Ala56Thr) variant details
- p.Ala56Thr
- rs114601558
- ClinGen CA569451
- ClinVar RCV000873564
- ClinVar RCV002064736
- Benign/Likely benign
- not specified; Autosomal recessive early-onset Parkinson disease 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.06
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Benign/Likely benign (not specified; Autosomal recessive early-onset Parkinson disease)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BIAKA population (allele frequency 0.068)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. (PMID 23279440)