R77H (p.Arg77His) variant of AICDA (Q9GZX7)
R77H (p.Arg77His) 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 0.53 / 1. The record also includes population frequency data and structural context.
R77H (p.Arg77His) variant details
- p.Arg77His
- rs1941269563
- ClinGen CA383819226
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57564
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.41
- MetaLR 0.31
- MetaSVM -0.43
- CADD 27.50
- PolyPhen-2 0.90
- SIFT 0.00
- 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 9e-07)
- Structural context available