G833C (p.Gly833Cys) variant of CACNA2D2 (Q9NY47)
G833C (p.Gly833Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
G833C (p.Gly833Cys) variant details
- p.Gly833Cys
- rs1210463730
- ClinGen CA352911692
- ClinVar RCV003309671
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.26
- MetaLR 0.42
- MetaSVM -0.26
- PolyPhen-2 0.98
- SIFT 0.03
- MutPred 0.43
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)