Q7H (p.Gln7His) variant of LRRK2 (Q5S007)
Q7H (p.Gln7His) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Parkinson disease 8. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q7H (p.Gln7His) variant details
- p.Gln7His
- rs2499329256
- ClinGen CA384398261
- ClinVar RCV003640167
- Uncertain significance
- Autosomal dominant Parkinson disease 8
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.07
- MetaLR 0.06
- MetaSVM -0.99
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (Autosomal dominant Parkinson disease 8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: LRRK2-Related Parkinson Disease. (PMID 20301387)
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)