I52T (p.Ile52Thr) variant of CARD11 (Q9BXL7)
I52T (p.Ile52Thr) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I52T (p.Ile52Thr) variant details
- p.Ile52Thr
- rs1780507014
- ClinGen CA366647815
- ClinVar RCV001046096
- gnomAD rs1780507014
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.43
- CADD 26.40
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available