M52V (p.Met52Val) variant of CACNA1A (O00555)
M52V (p.Met52Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
M52V (p.Met52Val) variant details
- p.Met52Val
- rs758952079
- ClinGen CA9241091
- ClinVar RCV002681850
- ExAC rs758952079
- Likely benign
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.52
- MetaLR 0.70
- MetaSVM 0.36
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-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)