V201I (p.Val201Ile) variant of CACNA2D2 (Q9NY47)
V201I (p.Val201Ile) 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 0.37 / 1. The record also includes population frequency data and structural context.
V201I (p.Val201Ile) variant details
- p.Val201Ile
- rs866928902
- ClinGen CA74619763
- ClinVar RCV006466598
- TOPMed rs866928902
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.21
- MetaLR 0.09
- MetaSVM -1.15
- CADD 23.50
- PolyPhen-2 0.66
- SIFT 0.01
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available