G9C (p.Gly9Cys) variant of CACNA2D2 (Q9NY47)
G9C (p.Gly9Cys) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G9C (p.Gly9Cys) variant details
- p.Gly9Cys
- rs1699068294
- ClinGen CA353000525
- ClinVar RCV006560242
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.02
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available