V1392A (p.Val1392Ala) variant of CACNA1A (O00555)
V1392A (p.Val1392Ala) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.88 / 1. The record also includes published literature and structural context.
V1392A (p.Val1392Ala) variant details
- p.Val1392Ala
- rs2144767386
- ClinGen CA404339699
- ClinVar RCV002034426
- ClinVar RCV002466277
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.10
- SIFT 0.00
- EVE 0.66
- MutPred 0.74
- ClinVar: Pathogenic/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)