L19S (p.Leu19Ser) variant of LRRK2 (Q5S007)
L19S (p.Leu19Ser) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L19S (p.Leu19Ser) variant details
- p.Leu19Ser
- gnomAD 12-40225187-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.28
- MetaLR 0.33
- MetaSVM -0.37
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available