E101Q (p.Glu101Gln) variant of CACNA1A (O00555)
E101Q (p.Glu101Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
E101Q (p.Glu101Gln) variant details
- p.Glu101Gln
- rs886037944
- ClinGen CA10586393
- ClinVar RCV000240952
- UniProt VAR 077071
- Pathogenic
- Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.86
- MetaLR 0.66
- MetaSVM 0.51
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.57
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 42)
- EBI: Pathogenic (in DEE42)
- UniProt: Pathogenic (in DEE42)
- Structural context available
- Cited in: De novo mutations in epileptic encephalopathies. (PMID 23934111)
- Cited in: De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies. (PMID 27476654)