E64R (p.Glu64Arg) variant of PARK7 (Parkinson disease protein 7)
E64R (p.Glu64Arg) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E64R (p.Glu64Arg) variant details
- p.Glu64Arg
- rs759703272
- gnomAD 1-7965415-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.756
- CADD 24.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available