I52V (p.Ile52Val) variant of PARK7 (Parkinson disease protein 7)
I52V (p.Ile52Val) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- cosmic curated COSV58579
- ExAC rs775909660
- gnomAD rs775909660
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.36
- CADD 20.70
- PolyPhen-2 0.06
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available