A2G (p.Ala2Gly) variant of LRRK2 (Q5S007)
A2G (p.Ala2Gly) in LRRK2 (Q5S007) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A2G (p.Ala2Gly) variant details
- p.Ala2Gly
- ExAC rs778295181
- TOPMed rs778295181
- gnomAD rs778295181
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.15
- MetaLR 0.19
- MetaSVM -0.77
- CADD 25.40
- PolyPhen-2 0.96
- SIFT 0.09
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available