V20A (p.Val20Ala) variant of PARK7 (Parkinson disease protein 7)
V20A (p.Val20Ala) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal recessive early-onset Parkinson disease 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V20A (p.Val20Ala) variant details
- p.Val20Ala
- rs370430693
- ClinGen CA569417
- ClinVar RCV000367784
- ESP rs370430693
- Uncertain significance
- Autosomal recessive early-onset Parkinson disease 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal recessive early-onset Parkinson disease 7)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)