L61F (p.Leu61Phe) variant of CARD11 (Q9BXL7)
L61F (p.Leu61Phe) 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.
L61F (p.Leu61Phe) variant details
- p.Leu61Phe
- rs1780506319
- ClinGen CA366647747
- ClinVar RCV001206845
- Ensembl rs1780506319
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.83
- MetaLR 0.13
- MetaSVM -1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available