E13D (p.Glu13Asp) variant of LRRK2 (Q5S007)
E13D (p.Glu13Asp) 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 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E13D (p.Glu13Asp) variant details
- p.Glu13Asp
- rs775407458
- ClinGen CA6512966
- ClinVar RCV002375637
- ExAC rs775407458
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -0.71
- CADD 24.60
- PolyPhen-2 0.79
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)