S66L (p.Ser66Leu) variant of AICDA (Q9GZX7)
S66L (p.Ser66Leu) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, 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 0.43 / 1. The record also includes population frequency data and structural context.
S66L (p.Ser66Leu) variant details
- p.Ser66Leu
- rs1941270570
- ClinGen CA383819373
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57563
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.36
- MetaLR 0.12
- MetaSVM -0.95
- CADD 23.30
- PolyPhen-2 0.06
- SIFT 0.10
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available