I31N (p.Ile31Asn) variant of PARK7 (Parkinson disease protein 7)
I31N (p.Ile31Asn) in PARK7 (Parkinson disease protein 7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
I31N (p.Ile31Asn) variant details
- p.Ile31Asn
- gnomAD 1-7962875-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.874
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available