Y31C (p.Tyr31Cys) variant of AICDA (Q9GZX7)
Y31C (p.Tyr31Cys) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Hyper-IgM syndrome type 2. The record also includes structural context.
Y31C (p.Tyr31Cys) variant details
- p.Tyr31Cys
- rs1057519097
- ClinGen CA16043732
- ClinVar RCV000415972
- Ensembl rs1057519097
- Likely pathogenic
- not provided; Hyper-IgM syndrome type 2
- Missense
- ClinVar: Likely pathogenic (not provided; Hyper-IgM syndrome type 2)
- EBI: Likely pathogenic (in HIGM2)
- UniProt: Likely pathogenic (in HIGM2)
- Structural context available