G22R (p.Gly22Arg) variant of CACNA1A (O00555)
G22R (p.Gly22Arg) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs2513709975
- ClinGen CA404971279
- ClinVar RCV003034315
- cosmic curated COSV64190
- Uncertain significance
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.47
- MetaLR 0.79
- MetaSVM 0.48
- CADD 26.20
- PolyPhen-2 1.00
- 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 HGDP:MBUTI population (allele frequency 0.083)
- 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)