I31F (p.Ile31Phe) variant of PARK7 (Parkinson disease protein 7)
I31F (p.Ile31Phe) in PARK7 (Parkinson disease protein 7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
I31F (p.Ile31Phe) variant details
- p.Ile31Phe
- ExAC rs749054218
- gnomAD rs749054218
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.47
- CADD 24.20
- PolyPhen-2 0.11
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available