R36C (p.Arg36Cys) variant of AICDA (Q9GZX7)
R36C (p.Arg36Cys) 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 0.47 / 1. The record also includes population frequency data and structural context.
R36C (p.Arg36Cys) variant details
- p.Arg36Cys
- rs200228627
- ClinGen CA6434510
- cosmic curated COSV99984
- ClinVar RCV001865201
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.58
- MetaLR 0.45
- MetaSVM -0.10
- CADD 18.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available