K17Q (p.Lys17Gln) variant of LRRK2 (Q5S007)
K17Q (p.Lys17Gln) in LRRK2 (Q5S007) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
K17Q (p.Lys17Gln) variant details
- p.Lys17Gln
- rs1940803086
- ClinGen CA384398366
- ClinVar RCV002343005
- TOPMed rs1940803086
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.04
- MetaLR 0.08
- MetaSVM -1.02
- CADD 23.60
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)