G126D (p.Gly126Asp) variant of CARD11 (Q9BXL7)
G126D (p.Gly126Asp) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; Immuno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
G126D (p.Gly126Asp) variant details
- p.Gly126Asp
- rs1423056320
- ClinGen CA366647286
- NCI-TCGA Cosmic COSV6271
- ClinVar RCV001619931
- Likely pathogenic
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; Immuno
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.97
- MetaLR 0.26
- MetaSVM -0.49
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.67
- ClinVar: Likely pathogenic (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available