G57C (p.Gly57Cys) variant of LRRK2 (Q5S007)
G57C (p.Gly57Cys) in LRRK2 (Q5S007) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G57C (p.Gly57Cys) variant details
- p.Gly57Cys
- ESP rs370488844
- ExAC rs370488844
- TOPMed rs370488844
- gnomAD rs370488844
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.21
- MetaLR 0.17
- MetaSVM -0.74
- CADD 31.00
- PolyPhen-2 0.73
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available