A2V (p.Ala2Val) variant of CACNA1A (O00555)
A2V (p.Ala2Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Inborn g. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs927310190
- ClinGen CA16620804
- ClinVar RCV001362235
- ClinVar RCV001704643
- Conflicting interpretations
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.61
- MetaLR 0.89
- MetaSVM 0.65
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)