T154A (p.Thr154Ala) variant of PARK7 (Parkinson disease protein 7)
T154A (p.Thr154Ala) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Young-onset Parkinson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
T154A (p.Thr154Ala) variant details
- p.Thr154Ala
- rs1472900688
- ClinGen CA338167099
- ClinVar RCV001449624
- gnomAD rs1472900688
- Likely pathogenic
- Young-onset Parkinson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.96
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Young-onset Parkinson disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available