E49V (p.Glu49Val) variant of LRRK2 (Q5S007)
E49V (p.Glu49Val) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E49V (p.Glu49Val) variant details
- p.Glu49Val
- gnomAD 12-40225277-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.01
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available