M12T (p.Met12Thr) variant of CARD11 (Q9BXL7)
M12T (p.Met12Thr) 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 0.13 / 1. The record also includes population frequency data and structural context.
M12T (p.Met12Thr) variant details
- p.Met12Thr
- rs2535142240
- ClinGen CA366648097
- ClinVar RCV003802304
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.02
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.10
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available