L77S (p.Leu77Ser) variant of CARD11 (Q9BXL7)
L77S (p.Leu77Ser) 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 record also includes structural context.
L77S (p.Leu77Ser) variant details
- p.Leu77Ser
- rs2535136296
- ClinGen CA366647636
- ClinVar RCV003056146
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available