G5E (p.Gly5Glu) variant of CACNA1E (Q15878)
G5E (p.Gly5Glu) in CACNA1E (Q15878) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G5E (p.Gly5Glu) variant details
- p.Gly5Glu
- rs1663514169
- ClinGen CA343844161
- ClinVar RCV003676692
- Ensembl rs1663514169
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.69
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available