S38G (p.Ser38Gly) variant of AICDA (Q9GZX7)
S38G (p.Ser38Gly) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S38G (p.Ser38Gly) variant details
- p.Ser38Gly
- ESP rs377213745
- ExAC rs377213745
- gnomAD rs377213745
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -0.96
- CADD 14.80
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available