A116T (p.Ala116Thr) variant of CACNA1A (O00555)
A116T (p.Ala116Thr) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- rs778725158
- ClinGen CA404967855
- ClinVar RCV000653328
- ExAC rs778725158
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.63
- MetaLR 0.52
- MetaSVM 0.15
- CADD 26.40
- PolyPhen-2 0.78
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)