V964I (p.Val964Ile) variant of CACNA2D2 (Q9NY47)
V964I (p.Val964Ile) 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 0.33 / 1. The record also includes population frequency data and structural context.
V964I (p.Val964Ile) variant details
- p.Val964Ile
- rs1704238712
- ClinGen CA352903732
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99818
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.38
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available