R75W (p.Arg75Trp) variant of CARD11 (Q9BXL7)
R75W (p.Arg75Trp) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Immunodeficiency 11b with atopic dermatitis; BENTA disease; Severe combined immu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
R75W (p.Arg75Trp) variant details
- p.Arg75Trp
- rs2115090664
- ClinGen CA366647646
- ClinVar RCV001373481
- ClinVar RCV002285025
- Conflicting interpretations
- Immunodeficiency 11b with atopic dermatitis; BENTA disease; Severe combined immu
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.73
- MetaLR 0.16
- MetaSVM -0.87
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Conflicting classifications of pathogenicity (Immunodeficiency 11b with atopic dermatitis; BENTA disease; Seve)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available