M32T (p.Met32Thr) variant of CARD11 (Q9BXL7)
M32T (p.Met32Thr) 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; Inborn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
M32T (p.Met32Thr) variant details
- p.Met32Thr
- rs1236228710
- ClinGen CA366647951
- ClinVar RCV001340659
- ClinVar RCV004601461
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease; Inborn
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.05
- SIFT 0.40
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)