T43R (p.Thr43Arg) variant of CARD11 (Q9BXL7)
T43R (p.Thr43Arg) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Immunodeficiency 11b with atopic dermatitis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
T43R (p.Thr43Arg) variant details
- p.Thr43Arg
- rs2115094112
- ClinGen CA366647873
- ClinVar RCV002286326
- Likely pathogenic
- Immunodeficiency 11b with atopic dermatitis
- 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: Likely pathogenic (Immunodeficiency 11b with atopic dermatitis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available