M879I (p.Met879Ile) variant of CACNA2D2 (Q9NY47)
M879I (p.Met879Ile) 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 0.49 / 1. The record also includes population frequency data and structural context.
M879I (p.Met879Ile) variant details
- p.Met879Ile
- rs1286525418
- ClinGen CA352907482
- ClinVar RCV006558813
- gnomAD rs1286525418
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- AlphaMissense 0.96
- MetaLR 0.46
- MetaSVM -0.14
- PolyPhen-2 0.96
- SIFT 0.71
- MutPred 0.44
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available