R351H (p.Arg351His) variant of CACNA2D2 (Q9NY47)
R351H (p.Arg351His) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R351H (p.Arg351His) variant details
- p.Arg351His
- rs747629573
- ClinGen CA2418994
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56562
- Uncertain significance
- Developmental and epileptic encephalopathy; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.59
- MetaLR 0.64
- MetaSVM 0.27
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- 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)