R72Q (p.Arg72Gln) variant of CARD11 (Q9BXL7)
R72Q (p.Arg72Gln) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
R72Q (p.Arg72Gln) variant details
- p.Arg72Gln
- rs2115093887
- ClinGen CA366647672
- NCI-TCGA Cosmic COSV6271
- ClinVar RCV001983408
- Conflicting interpretations
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency; not pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- AlphaMissense 0.37
- MetaLR 0.32
- MetaSVM -0.48
- PolyPhen-2 1.00
- SIFT 0.07
- EVE 0.52
- ClinVar: Conflicting classifications of pathogenicity (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available