D302H (p.Asp302His) variant of CACNA1A (O00555)
D302H (p.Asp302His) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
D302H (p.Asp302His) variant details
- p.Asp302His
- rs863224852
- ClinGen CA404347137
- ClinVar RCV002226088
- ClinVar RCV006558658
- Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.957
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)