D123V (p.Asp123Val) variant of CACNA1A (O00555)
D123V (p.Asp123Val) 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 0.38 / 1. The record also includes published literature and structural context.
D123V (p.Asp123Val) variant details
- p.Asp123Val
- rs1555789420
- ClinGen CA404967807
- ClinVar RCV000660501
- ClinVar RCV006556501
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.33
- MetaLR 0.13
- MetaSVM -0.90
- PolyPhen-2 0.77
- SIFT 0.42
- MutPred 0.43
- 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)