V84M (p.Val84Met) variant of CACNA2D2 (Q9NY47)
V84M (p.Val84Met) 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 0.37 / 1. The record also includes population frequency data and structural context.
V84M (p.Val84Met) variant details
- p.Val84Met
- rs367932722
- ClinGen CA2419284
- ClinVar RCV000698035
- ESP rs367932722
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.15
- MetaLR 0.04
- MetaSVM -1.13
- CADD 22.90
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available