R30Q (p.Arg30Gln) variant of CARD11 (Q9BXL7)
R30Q (p.Arg30Gln) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Primary immunodeficiency or monogenic inflammatory bowel disease; BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R30Q (p.Arg30Gln) variant details
- p.Arg30Gln
- rs1554276653
- ClinGen CA366647963
- ClinVar RCV000540862
- Ensembl rs1554276653
- Conflicting interpretations
- Primary immunodeficiency or monogenic inflammatory bowel disease; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.64
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Primary immunodeficiency or monogenic inflammatory bowel disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available