K50N (p.Lys50Asn) variant of CARD11 (Q9BXL7)
K50N (p.Lys50Asn) 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 0.39 / 1. The record also includes structural context.
K50N (p.Lys50Asn) variant details
- p.Lys50Asn
- rs1282104067
- ClinGen CA366647826
- ClinVar RCV000703759
- gnomAD rs1282104067
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- AlphaMissense 0.95
- MetaLR 0.11
- MetaSVM -1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available