P539S (p.Pro539Ser) variant of CACNA2D2 (Q9NY47)
P539S (p.Pro539Ser) 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 0.34 / 1. The record also includes structural context.
P539S (p.Pro539Ser) variant details
- p.Pro539Ser
- rs1705051616
- ClinGen CA352927256
- ClinVar RCV006559732
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.39
- MetaLR 0.06
- MetaSVM -1.20
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.51
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available