R30W (p.Arg30Trp) variant of CARD11 (Q9BXL7)
R30W (p.Arg30Trp) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Immunodeficiency 11b with atopic dermatitis; Severe combined immunodeficiency du. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- rs145474800
- ClinGen CA366647967
- ClinVar RCV000528697
- ClinVar RCV000788795
- Pathogenic/Likely pathogenic
- Immunodeficiency 11b with atopic dermatitis; Severe combined immunodeficiency du
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.98
- MetaLR 0.30
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (Immunodeficiency 11b with atopic dermatitis; Severe combined imm)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available