V25G (p.Val25Gly) variant of CACNA1A (O00555)
V25G (p.Val25Gly) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V25G (p.Val25Gly) variant details
- p.Val25Gly
- rs565157998
- ClinGen CA9241106
- ClinVar RCV001071758
- 1000Genomes rs565157998
- Likely benign
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.35
- MetaLR 0.71
- MetaSVM 0.08
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.15
- ClinVar: Likely benign (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)