M139T (p.Met139Thr) variant of AICDA (Q9GZX7)
M139T (p.Met139Thr) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
M139T (p.Met139Thr) variant details
- p.Met139Thr
- rs200858797
- ClinGen CA6434419
- ClinVar RCV000788125
- ClinVar RCV001385304
- Pathogenic
- not provided; Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- REVEL 0.85
- MetaLR 0.56
- MetaSVM 0.32
- CADD 26.70
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Hyper-IgM syndrome type 2)
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0024)
- Structural context available