I624F (p.Ile624Phe) variant of CACNA1A (O00555)
I624F (p.Ile624Phe) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Spinocerebellar ataxia type 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
I624F (p.Ile624Phe) variant details
- p.Ile624Phe
- rs2145004096
- ClinGen CA404344803
- ClinVar RCV002273848
- Ensembl rs2145004096
- Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Spinocerebellar ataxia type 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- AlphaMissense 0.94
- MetaLR 0.94
- MetaSVM 1.03
- SIFT 0.19
- MutPred 0.76
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 42; Spinocerebellar)
- EBI: Likely pathogenic
- UniProt: Likely 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)