A44T (p.Ala44Thr) variant of CACNA1A (O00555)
A44T (p.Ala44Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Spinocer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- rs201398669
- ClinGen CA9241093
- ClinVar RCV002049964
- ClinVar RCV002478081
- Conflicting interpretations
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Spinocer
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.28
- MetaLR 0.67
- MetaSVM -0.19
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- 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)