V524L (p.Val524Leu) variant of CACNA2D2 (Q9NY47)
V524L (p.Val524Leu) 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 0.46 / 1. The record also includes structural context.
V524L (p.Val524Leu) variant details
- p.Val524Leu
- rs758052476
- ClinGen CA352927670
- ClinVar RCV006559699
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.92
- MetaLR 0.28
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available