I711V (p.Ile711Val) variant of CACNA1A (O00555)
I711V (p.Ile711Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.92 / 1. The record also includes published literature and structural context.
I711V (p.Ile711Val) variant details
- p.Ile711Val
- rs1568514116
- ClinGen CA404344184
- ClinVar RCV000990168
- ClinVar RCV001267553
- Pathogenic/Likely pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; Inborn g
- Missense
- Variant Prioritization Score for Impact Estimate 0.92
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- MutPred 0.65
- ClinVar: Pathogenic/Likely pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- 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)