L39V (p.Leu39Val) variant of LRRK2 (Q5S007)
L39V (p.Leu39Val) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- gnomAD 12-40225246-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.62
- CADD 23.50
- PolyPhen-2 0.40
- SIFT 0.07
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available