V1392L (p.Val1392Leu) variant of CACNA1A (O00555)
V1392L (p.Val1392Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V1392L (p.Val1392Leu) variant details
- p.Val1392Leu
- rs794727411
- ClinGen CA404339701
- ClinVar RCV001706925
- ClinVar RCV003771862
- Conflicting interpretations
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.82
- CADD 25.50
- PolyPhen-2 0.67
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)