L35V (p.Leu35Val) variant of LRRK2 (Q5S007)
L35V (p.Leu35Val) in LRRK2 (Q5S007) is a missense change. 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.
L35V (p.Leu35Val) variant details
- p.Leu35Val
- ExAC rs778207306
- gnomAD rs778207306
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.01
- MetaLR 0.08
- MetaSVM -0.97
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available