L98R (p.Leu98Arg) variant of AICDA (Q9GZX7)
L98R (p.Leu98Arg) 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.
L98R (p.Leu98Arg) variant details
- p.Leu98Arg
- rs2540251593
- ClinGen CA383818967
- ClinVar RCV003037443
- Likely pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.83
- MetaLR 0.59
- MetaSVM 0.38
- CADD 29.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Hyper-IgM syndrome type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available