R75Q (p.Arg75Gln) variant of CARD11 (Q9BXL7)
R75Q (p.Arg75Gln) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R75Q (p.Arg75Gln) variant details
- p.Arg75Gln
- rs1064795280
- ClinGen CA16618451
- NCI-TCGA Cosmic COSV6271
- ClinVar RCV000726904
- Conflicting interpretations
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.20
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available