R30G (p.Arg30Gly) variant of CARD11 (Q9BXL7)
R30G (p.Arg30Gly) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of BENTA disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
R30G (p.Arg30Gly) variant details
- p.Arg30Gly
- rs145474800
- ClinGen CA366647966
- ClinVar RCV001542760
- ESP rs145474800
- Likely pathogenic
- BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- AlphaMissense 0.98
- MetaLR 0.30
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Likely pathogenic (BENTA disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available