L46P (p.Leu46Pro) variant of CARD11 (Q9BXL7)
L46P (p.Leu46Pro) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs2115094085
- ClinGen CA366647854
- ClinVar RCV002302086
- Ensembl rs2115094085
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- AlphaMissense 1.00
- MetaLR 0.48
- MetaSVM 0.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available