I1809L (p.Ile1809Leu) variant of CACNA1A (O00555)
I1809L (p.Ile1809Leu) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
I1809L (p.Ile1809Leu) variant details
- p.Ile1809Leu
- rs121908214
- ClinGen CA254421
- ClinVar RCV000009012
- ClinVar RCV001390440
- Pathogenic
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not prov
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.81
- MetaLR 0.97
- MetaSVM 1.09
- SIFT 0.00
- EVE 0.76
- MutPred 0.68
- ClinVar: Pathogenic (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Structural context available
- Cited in: Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG. (PMID 8734765)
- Cited in: Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. (PMID 8898206)