E316K (p.Glu316Lys) variant of CACNA2D2 (Q9NY47)
E316K (p.Glu316Lys) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E316K (p.Glu316Lys) variant details
- p.Glu316Lys
- rs769033285
- ClinGen CA2419019
- NCI-TCGA Cosmic COSV5657
- cosmic curated COSV56570
- Uncertain significance
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.65
- MetaLR 0.38
- MetaSVM -0.24
- CADD 24.20
- PolyPhen-2 0.11
- SIFT 0.03
- ClinVar: Uncertain significance (Early-infantile DEE; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)