V428M (p.Val428Met) variant of CACNA2D2 (Q9NY47)
V428M (p.Val428Met) 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 0.74 / 1. The record also includes population frequency data and structural context.
V428M (p.Val428Met) variant details
- p.Val428Met
- rs748093850
- ClinGen CA2418912
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99816
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.72
- MetaLR 0.72
- MetaSVM 0.59
- CADD 26.00
- PolyPhen-2 0.49
- SIFT 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available