S185T (p.Ser185Thr) variant of CACNA2D2 (Q9NY47)
S185T (p.Ser185Thr) 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 0.28 / 1. The record also includes structural context.
S185T (p.Ser185Thr) variant details
- p.Ser185Thr
- rs969458402
- ClinGen CA352944610
- ClinVar RCV006562498
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- AlphaMissense 0.08
- MetaLR 0.01
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.40
- MutPred 0.42
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available