Y64H (p.Tyr64His) variant of AICDA (Q9GZX7)
Y64H (p.Tyr64His) 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 0.28 / 1. The record also includes population frequency data and structural context.
Y64H (p.Tyr64His) variant details
- p.Tyr64His
- rs944982893
- ClinGen CA232648035
- cosmic curated COSV10874
- ClinVar RCV001965291
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.97
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.30
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-05)
- Structural context available