R406H (p.Arg406His) variant of CACNA2D2 (Q9NY47)
R406H (p.Arg406His) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R406H (p.Arg406His) variant details
- p.Arg406His
- rs752852530
- ClinGen CA2418946
- ClinVar RCV000540272
- ExAC rs752852530
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.19
- MetaLR 0.09
- MetaSVM -1.10
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available