G297R (p.Gly297Arg) variant of CACNA1A (O00555)
G297R (p.Gly297Arg) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant CACNA1A-related disorders; Developmental and epileptic enceph. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G297R (p.Gly297Arg) variant details
- p.Gly297Arg
- rs1168625480
- ClinGen CA404347198
- cosmic curated COSV64198
- ClinVar RCV000686079
- Pathogenic/Likely pathogenic
- Autosomal dominant CACNA1A-related disorders; Developmental and epileptic enceph
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- REVEL 0.95
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant CACNA1A-related disorders; Developmental and)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-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)