I9V (p.Ile9Val) variant of PARK7 (Parkinson disease protein 7)
I9V (p.Ile9Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I9V (p.Ile9Val) variant details
- p.Ile9Val
- gnomAD rs1640237235
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.15
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available