D58V (p.Asp58Val) variant of CARD11 (Q9BXL7)
D58V (p.Asp58Val) 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 0.43 / 1. The record also includes structural context.
D58V (p.Asp58Val) variant details
- p.Asp58Val
- rs1780506565
- ClinGen CA366647766
- ClinVar RCV001043571
- Ensembl rs1780506565
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.72
- MetaLR 0.13
- MetaSVM -0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available