K165E (p.Lys165Glu) variant of CACNA2D2 (Q9NY47)
K165E (p.Lys165Glu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
K165E (p.Lys165Glu) variant details
- p.Lys165Glu
- rs1272154597
- ClinGen CA352946364
- ClinVar RCV006559729
- TOPMed rs1272154597
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.99
- MetaLR 0.08
- MetaSVM -1.09
- PolyPhen-2 1.00
- SIFT 0.08
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available