E193K (p.Glu193Lys) variant of CACNA2D2 (Q9NY47)
E193K (p.Glu193Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
E193K (p.Glu193Lys) variant details
- p.Glu193Lys
- rs587610576
- ClinGen CA2419141
- NCI-TCGA Cosmic COSV5656
- ClinVar RCV001044791
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.15
- MetaLR 0.02
- MetaSVM -0.89
- CADD 22.70
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available