V883F (p.Val883Phe) variant of CACNA2D2 (Q9NY47)
V883F (p.Val883Phe) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebellar atrophy with seizures and variable developmental delay. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes structural context.
V883F (p.Val883Phe) variant details
- p.Val883Phe
- rs140305683
- ClinGen CA352907348
- ClinVar RCV003990906
- Uncertain significance
- Cerebellar atrophy with seizures and variable developmental delay
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.10
- MetaLR 0.33
- MetaSVM -0.55
- PolyPhen-2 0.08
- SIFT 0.24
- ClinVar: Uncertain significance (Cerebellar atrophy with seizures and variable developmental dela)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available