R957W (p.Arg957Trp) variant of CACNA2D2 (Q9NY47)
R957W (p.Arg957Trp) 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; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R957W (p.Arg957Trp) variant details
- p.Arg957Trp
- rs1209696501
- ClinGen CA352904166
- NCI-TCGA Cosmic COSV9981
- ClinVar RCV000795902
- Uncertain significance
- Developmental and epileptic encephalopathy; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- AlphaMissense 0.36
- MetaLR 0.49
- MetaSVM -0.05
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.58
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)