L113P (p.Leu113Pro) variant of AICDA (Q9GZX7)
L113P (p.Leu113Pro) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L113P (p.Leu113Pro) variant details
- p.Leu113Pro
- rs1268237441
- ClinGen CA383818749
- ClinVar RCV001222115
- gnomAD rs1268237441
- Pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.82
- MetaLR 0.54
- MetaSVM 0.26
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hyper-IgM syndrome type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Deaminase activity of AID in generation 2: score 0.169