E101K (p.Glu101Lys) variant of CACNA1A (O00555)
E101K (p.Glu101Lys) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Developmental and epileptic encephalopathy, 42; Episodic ataxia ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
E101K (p.Glu101Lys) variant details
- p.Glu101Lys
- rs886037944
- ClinGen CA404967957
- ClinVar RCV001544846
- ClinVar RCV001882616
- Likely pathogenic
- not provided; Developmental and epileptic encephalopathy, 42; Episodic ataxia ty
- 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: Likely pathogenic (not provided; Developmental and epileptic encephalopathy, 42; Ep)
- EBI: Pathogenic (in DEE42)
- UniProt: Pathogenic (in DEE42)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)