M139I (p.Met139Ile) variant of AICDA (Q9GZX7)
M139I (p.Met139Ile) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
M139I (p.Met139Ile) variant details
- p.Met139Ile
- rs1591744217
- ClinGen CA383818277
- ClinVar RCV000988783
- Ensembl rs1591744217
- Likely pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- REVEL 0.79
- MetaLR 0.63
- MetaSVM 0.45
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 2)
- EBI: Likely pathogenic (in HIGM2)
- UniProt: Likely pathogenic (in HIGM2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available