G953S (p.Gly953Ser) variant of CACNA2D2 (Q9NY47)
G953S (p.Gly953Ser) 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 0.47 / 1. The record also includes structural context.
G953S (p.Gly953Ser) variant details
- p.Gly953Ser
- rs2109402396
- ClinGen CA352904364
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99816
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.18
- MetaLR 0.42
- MetaSVM -0.28
- PolyPhen-2 0.96
- SIFT 0.23
- MutPred 0.38
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available