R422C (p.Arg422Cys) variant of CACNA2D2 (Q9NY47)
R422C (p.Arg422Cys) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebellar atrophy with seizures and variable developmental delay; Early-infanti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R422C (p.Arg422Cys) variant details
- p.Arg422Cys
- rs1705146191
- ClinGen CA352931693
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56560
- Uncertain significance
- Cerebellar atrophy with seizures and variable developmental delay; Early-infanti
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.91
- MetaLR 0.74
- MetaSVM 0.67
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Cerebellar atrophy with seizures and variable developmental dela)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available