R72L (p.Arg72Leu) variant of CARD11 (Q9BXL7)
R72L (p.Arg72Leu) 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 0.48 / 1. The record also includes structural context.
R72L (p.Arg72Leu) variant details
- p.Arg72Leu
- rs2115093887
- ClinGen CA366647670
- ClinVar RCV001543391
- Ensembl rs2115093887
- Likely pathogenic
- Immunodeficiency 11b with atopic dermatitis
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.37
- MetaLR 0.32
- MetaSVM -0.48
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.52
- ClinVar: Likely pathogenic (Immunodeficiency 11b with atopic dermatitis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available