R8W (p.Arg8Trp) variant of AICDA (Q9GZX7)
R8W (p.Arg8Trp) 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 0.38 / 1. The record also includes population frequency data and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs763540826
- ClinGen CA6434523
- cosmic curated COSV57564
- ClinVar RCV001214840
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.29
- MetaLR 0.23
- MetaSVM -0.59
- CADD 19.20
- PolyPhen-2 0.18
- SIFT 0.01
- 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 0.00019)
- Structural context available