T500M (p.Thr500Met) variant of CACNA1A (O00555)
T500M (p.Thr500Met) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Heredita. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
T500M (p.Thr500Met) variant details
- p.Thr500Met
- rs121908240
- ClinGen CA266034
- cosmic curated COSV64199
- ClinVar RCV000059291
- Pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Heredita
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.92
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Pathogenic (in EA2)
- UniProt: Pathogenic (in EA2)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. (PMID 20129625)
- Cited in: A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. (PMID 10408533)