T43M (p.Thr43Met) variant of CARD11 (Q9BXL7)
T43M (p.Thr43Met) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
T43M (p.Thr43Met) variant details
- p.Thr43Met
- rs2115094112
- ClinGen CA366647874
- ClinVar RCV001543387
- ClinVar RCV001762722
- Conflicting interpretations
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.80
- MetaLR 0.16
- MetaSVM -0.85
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Conflicting classifications of pathogenicity (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available