R835C (p.Arg835Cys) variant of CACNA2D2 (Q9NY47)
R835C (p.Arg835Cys) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cerebellar atrophy with seizures and variable developmental delay; Inborn geneti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R835C (p.Arg835Cys) variant details
- p.Arg835Cys
- rs774552132
- ClinGen CA2418473
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56567
- Conflicting interpretations
- Cerebellar atrophy with seizures and variable developmental delay; Inborn geneti
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.38
- MetaLR 0.38
- MetaSVM -0.25
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.55
- ClinVar: Conflicting classifications of pathogenicity (Cerebellar atrophy with seizures and variable developmental dela)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- 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)