R8Q (p.Arg8Gln) variant of AICDA (Q9GZX7)
R8Q (p.Arg8Gln) 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 0.17 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs773903008
- ClinGen CA6434522
- ClinVar RCV001883196
- ExAC rs773903008
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.21
- MetaLR 0.07
- MetaSVM -1.06
- CADD 0.55
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available