L22F (p.Leu22Phe) variant of CARD11 (Q9BXL7)
L22F (p.Leu22Phe) in CARD11 (Q9BXL7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency. The record also includes structural context.
L22F (p.Leu22Phe) variant details
- p.Leu22Phe
- Ensembl rs2115094265
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- UniProt: Uncertain significance
- Structural context available