L38M (p.Leu38Met) variant of PARK7 (Parkinson disease protein 7)
L38M (p.Leu38Met) 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.
L38M (p.Leu38Met) variant details
- p.Leu38Met
- gnomAD 1-7965345-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.48
- MetaLR 0.51
- MetaSVM -0.16
- CADD 21.40
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available