E28A (p.Glu28Ala) variant of LRRK2 (Q5S007)
E28A (p.Glu28Ala) 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.
E28A (p.Glu28Ala) variant details
- p.Glu28Ala
- gnomAD 12-40225214-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- MetaLR 0.17
- MetaSVM -0.77
- CADD 29.50
- PolyPhen-2 0.84
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available