E11D (p.Glu11Asp) variant of LRRK2 (Q5S007)
E11D (p.Glu11Asp) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- gnomAD 12-40225164-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.01
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available