F79V (p.Phe79Val) variant of CACNA1A (O00555)
F79V (p.Phe79Val) 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 0.59 / 1. The record also includes published literature and structural context.
F79V (p.Phe79Val) variant details
- p.Phe79Val
- rs2145192231
- ClinGen CA404970914
- ClinVar RCV001897424
- Ensembl rs2145192231
- Uncertain significance
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.19
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.75
- 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)