M32V (p.Met32Val) variant of CARD11 (Q9BXL7)
M32V (p.Met32Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
M32V (p.Met32Val) variant details
- p.Met32Val
- rs1359873709
- ClinGen CA366647953
- ClinVar RCV001947904
- TOPMed rs1359873709
- Uncertain significance
- Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.11
- CADD 20.40
- PolyPhen-2 0.10
- SIFT 0.23
- ClinVar: Uncertain significance (Severe combined immunodeficiency due to CARD11 deficiency; BENTA)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available