I1708T (p.Ile1708Thr) variant of CACNA1A (O00555)
I1708T (p.Ile1708Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of CACNA1A-related disorder; Episodic ataxia type 2; Developmental and epileptic en. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
I1708T (p.Ile1708Thr) variant details
- p.Ile1708Thr
- rs121909326
- ClinGen CA254489
- ClinVar RCV000009035
- ClinVar RCV000009036
- Likely pathogenic
- CACNA1A-related disorder; Episodic ataxia type 2; Developmental and epileptic en
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.97
- CADD 27.80
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 6; Episodic ataxia type 2; Migraine,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. (PMID 15452324)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)