R743H (p.Arg743His) variant of CACNA2D2 (Q9NY47)
R743H (p.Arg743His) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy. 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.
R743H (p.Arg743His) variant details
- p.Arg743His
- rs768385122
- ClinGen CA2418564
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99817
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- AlphaMissense 0.11
- MetaLR 0.30
- MetaSVM -0.69
- PolyPhen-2 0.98
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)