R35C (p.Arg35Cys) variant of CARD11 (Q9BXL7)
R35C (p.Arg35Cys) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
R35C (p.Arg35Cys) variant details
- p.Arg35Cys
- rs1780508141
- ClinGen CA366647929
- ClinVar RCV001300431
- Ensembl rs1780508141
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.53
- MetaLR 0.19
- MetaSVM -0.74
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available