E334K (p.Glu334Lys) variant of CACNA2D2 (Q9NY47)
E334K (p.Glu334Lys) 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 0.35 / 1. The record also includes population frequency data and structural context.
E334K (p.Glu334Lys) variant details
- p.Glu334Lys
- rs743855
- ClinGen CA74615594
- ClinVar RCV001296063
- UniProt VAR 057782
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.30
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance (in dbSNP:rs743855)
- UniProt: Uncertain significance (in dbSNP:rs743855)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available