E106D (p.Glu106Asp) variant of CACNA2D2 (Q9NY47)
E106D (p.Glu106Asp) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E106D (p.Glu106Asp) variant details
- p.Glu106Asp
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56561
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.02
- MetaLR 0.01
- MetaSVM -0.95
- CADD 10.70
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (Early-infantile DEE)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available