V32I (p.Val32Ile) variant of AICDA (Q9GZX7)
V32I (p.Val32Ile) 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 0.32 / 1. The record also includes population frequency data and structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- rs756147874
- ClinGen CA6434512
- ClinVar RCV002794783
- ExAC rs756147874
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -0.97
- CADD 15.60
- PolyPhen-2 0.04
- SIFT 0.46
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available