R102W (p.Arg102Trp) variant of CACNA2D2 (Q9NY47)
R102W (p.Arg102Trp) 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; Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R102W (p.Arg102Trp) variant details
- p.Arg102Trp
- rs568540115
- ClinGen CA2419259
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56565
- Uncertain significance
- Inborn genetic diseases; Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.17
- MetaLR 0.04
- MetaSVM -1.12
- CADD 26.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- 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)