G764S (p.Gly764Ser) variant of CACNA2D2 (Q9NY47)
G764S (p.Gly764Ser) 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 0.50 / 1. The record also includes population frequency data and structural context.
G764S (p.Gly764Ser) variant details
- p.Gly764Ser
- rs906863087
- ClinGen CA74608051
- NCI-TCGA Cosmic COSV5656
- cosmic curated COSV56563
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- AlphaMissense 0.31
- MetaLR 0.50
- MetaSVM -0.22
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.58
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available