R239H (p.Arg239His) variant of CACNA2D2 (Q9NY47)
R239H (p.Arg239His) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R239H (p.Arg239His) variant details
- p.Arg239His
- rs201610016
- ClinGen CA2419096
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56561
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.09
- MetaLR 0.02
- MetaSVM -1.01
- CADD 23.00
- PolyPhen-2 0.33
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:UYGUR population (allele frequency 0.083)
- 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)