Q37H (p.Gln37His) variant of LRRK2 (Q5S007)
Q37H (p.Gln37His) in LRRK2 (Q5S007) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q37H (p.Gln37His) variant details
- p.Gln37His
- TOPMed rs1245773394
- gnomAD rs1245773394
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.26
- MetaLR 0.19
- MetaSVM -0.70
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available