P4L (p.Pro4Leu) variant of CACNA2D2 (Q9NY47)
P4L (p.Pro4Leu) in CACNA2D2 (Q9NY47) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- rs2471324323
- ClinGen CA353000555
- ClinVar RCV002304657
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -1.05
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available