E10A (p.Glu10Ala) variant of LRRK2 (Q5S007)
E10A (p.Glu10Ala) 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.
E10A (p.Glu10Ala) variant details
- p.Glu10Ala
- rs759670012
- ClinGen CA6512964
- ClinVar RCV002435599
- ExAC rs759670012
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.00
- CADD 23.70
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)