V8E (p.Val8Glu) variant of PARK7 (Parkinson disease protein 7)
V8E (p.Val8Glu) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- gnomAD 1-7962805-T-TAGAG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.671
- CADD 31.00
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available
- Literature evidence available