Y12H (p.Tyr12His) variant of CACNA1A (O00555)
Y12H (p.Tyr12His) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
Y12H (p.Tyr12His) variant details
- p.Tyr12His
- rs1983017662
- ClinGen CA404971338
- ClinVar RCV002289278
- ClinVar RCV003097775
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- AlphaMissense 0.91
- MetaLR 0.91
- MetaSVM 0.54
- PolyPhen-2 1.00
- SIFT 0.30
- MutPred 0.22
- ClinVar: Uncertain significance (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)