E10V (p.Glu10Val) variant of LRRK2 (Q5S007)
E10V (p.Glu10Val) in LRRK2 (Q5S007) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E10V (p.Glu10Val) variant details
- p.Glu10Val
- ExAC rs759670012
- gnomAD rs759670012
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -1.01
- CADD 24.40
- PolyPhen-2 0.26
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available