R5I (p.Arg5Ile) variant of PARK7 (Parkinson disease protein 7)
R5I (p.Arg5Ile) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R5I (p.Arg5Ile) variant details
- p.Arg5Ile
- gnomAD 1-7962799-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.68
- CADD 26.70
- PolyPhen-2 0.32
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Literature evidence available