T14M (p.Thr14Met) variant of CARD11 (Q9BXL7)
T14M (p.Thr14Met) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar 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 0.33 / 1. The record also includes population frequency data and structural context.
T14M (p.Thr14Met) variant details
- p.Thr14Met
- rs1192456063
- NCI-TCGA Cosmic COSV6271
- TOPMed rs1192456063
- gnomAD rs1192456063
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available