V51I (p.Val51Ile) variant of PARK7 (Parkinson disease protein 7)
V51I (p.Val51Ile) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
V51I (p.Val51Ile) variant details
- p.Val51Ile
- gnomAD 1-7965384-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0937
- REVEL 0.06
- MetaLR 0.18
- MetaSVM -0.96
- CADD 0.05
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available