A11T (p.Ala11Thr) variant of PARK7 (Parkinson disease protein 7)
A11T (p.Ala11Thr) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- gnomAD rs1640237489
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.57
- CADD 27.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.7e-05)
- Structural context available