E122V (p.Glu122Val) variant of CARD11 (Q9BXL7)
E122V (p.Glu122Val) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
E122V (p.Glu122Val) variant details
- p.Glu122Val
- rs2115087125
- ClinGen CA366647312
- ClinVar RCV003799797
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- AlphaMissense 0.89
- MetaLR 0.18
- MetaSVM -0.76
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.67
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available