V44I (p.Val44Ile) variant of PARK7 (Parkinson disease protein 7)
V44I (p.Val44Ile) in PARK7 (Parkinson disease protein 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
V44I (p.Val44Ile) variant details
- p.Val44Ile
- gnomAD 1-7965363-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.38
- MetaLR 0.48
- MetaSVM -0.28
- CADD 24.40
- PolyPhen-2 0.64
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available