E28G (p.Glu28Gly) variant of LRRK2 (Q5S007)
E28G (p.Glu28Gly) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E28G (p.Glu28Gly) variant details
- p.Glu28Gly
- gnomAD 12-40225214-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.14
- MetaLR 0.19
- MetaSVM -0.74
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available