V60E (p.Val60Glu) variant of CARD11 (Q9BXL7)
V60E (p.Val60Glu) 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 0.44 / 1. The record also includes structural context.
V60E (p.Val60Glu) variant details
- p.Val60Glu
- rs1583410780
- ClinGen CA366647752
- ClinVar RCV000797816
- ClinVar RCV001543389
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.99
- MetaLR 0.25
- MetaSVM -0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.50
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available