Y64C (p.Tyr64Cys) variant of AICDA (Q9GZX7)
Y64C (p.Tyr64Cys) 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 0.39 / 1. The record also includes population frequency data and structural context.
Y64C (p.Tyr64Cys) variant details
- p.Tyr64Cys
- TOPMed rs1350627350
- gnomAD rs1350627350
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.36
- MetaLR 0.29
- MetaSVM -0.63
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.06
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available