V57A (p.Val57Ala) variant of AICDA (Q9GZX7)
V57A (p.Val57Ala) 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 0.32 / 1. The record also includes population frequency data and structural context.
V57A (p.Val57Ala) variant details
- p.Val57Ala
- ExAC rs770592785
- TOPMed rs770592785
- gnomAD rs770592785
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.17
- MetaLR 0.07
- MetaSVM -1.08
- CADD 20.40
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available