Y28H (p.Tyr28His) variant of AICDA (Q9GZX7)
Y28H (p.Tyr28His) 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 0.70 / 1. The record also includes population frequency data and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- rs199697153
- ClinGen CA6434515
- ClinVar RCV001991407
- 1000Genomes rs199697153
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.79
- MetaLR 0.54
- MetaSVM 0.23
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available