L3Q (p.Leu3Gln) variant of CHRNA4 (P43681)
L3Q (p.Leu3Gln) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial sleep-related hypermotor epilepsy; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
L3Q (p.Leu3Gln) variant details
- p.Leu3Gln
- rs2145412488
- ClinGen CA409645055
- ClinVar RCV001933947
- ClinVar RCV004975937
- Uncertain significance
- Familial sleep-related hypermotor epilepsy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.26
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.74
- CADD 22.80
- PolyPhen-2 0.62
- ClinVar: Uncertain significance (Familial sleep-related hypermotor epilepsy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)