G3E (p.Gly3Glu) variant of CARD11 (Q9BXL7)
G3E (p.Gly3Glu) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
G3E (p.Gly3Glu) variant details
- p.Gly3Glu
- rs1208108119
- ClinGen CA366648161
- NCI-TCGA Cosmic COSV6272
- ClinVar RCV002755336
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.09
- CADD 25.20
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available