N71K (p.Asn71Lys) variant of CARD11 (Q9BXL7)
N71K (p.Asn71Lys) 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.
N71K (p.Asn71Lys) variant details
- p.Asn71Lys
- rs2115093904
- ClinGen CA366647675
- ClinVar RCV003804372
- Ensembl rs2115093904
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.92
- MetaLR 0.27
- MetaSVM -0.73
- PolyPhen-2 1.00
- SIFT 0.14
- EVE 0.40
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available