M1I (p.Met1Ile) variant of CARD11 (Q9BXL7)
M1I (p.Met1Ile) 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 0.34 / 1. The record also includes population frequency data and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs746425765
- ClinGen CA4132917
- ClinVar RCV000812593
- ClinGen CA366640284
- Uncertain significance
- BENTA disease; Severe combined immunodeficiency due to CARD11 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- MetaLR 0.16
- MetaSVM -0.89
- PolyPhen-2 0.53
- SIFT 0.05
- MutPred 0.99
- ClinVar: Uncertain significance (BENTA disease; Severe combined immunodeficiency due to CARD11 de)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available