V57M (p.Val57Met) variant of AICDA (Q9GZX7)
V57M (p.Val57Met) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
V57M (p.Val57Met) variant details
- p.Val57Met
- rs786205474
- ClinGen CA235862
- cosmic curated COSV57564
- ClinVar RCV000171206
- Pathogenic/Likely pathogenic
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.40
- MetaLR 0.45
- MetaSVM -0.05
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Hyper-IgM syndrome type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available