C87S (p.Cys87Ser) variant of AICDA (Q9GZX7)
C87S (p.Cys87Ser) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of AICDA-related disorder; Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
C87S (p.Cys87Ser) variant details
- p.Cys87Ser
- rs1260264247
- ClinGen CA383819107
- ClinVar RCV001208331
- ClinVar RCV003405393
- Pathogenic/Likely pathogenic
- AICDA-related disorder; Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.91
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.04
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (AICDA-related disorder; Hyper-IgM syndrome type 2)
- EBI: Pathogenic (in HIGM2)
- UniProt: Pathogenic (in HIGM2)
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available