V891F (p.Val891Phe) variant of CACNA2D2 (Q9NY47)
V891F (p.Val891Phe) 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 record also includes structural context.
V891F (p.Val891Phe) variant details
- p.Val891Phe
- rs2470981530
- ClinGen CA352906937
- ClinVar RCV006560170
- Uncertain significance
- Early-infantile DEE
- Missense
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available