R50C (p.Arg50Cys) variant of AICDA (Q9GZX7)
R50C (p.Arg50Cys) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R50C (p.Arg50Cys) variant details
- p.Arg50Cys
- rs370700027
- ClinGen CA6434502
- cosmic curated COSV99984
- ClinVar RCV000817790
- Uncertain significance
- Inborn genetic diseases; Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.64
- MetaLR 0.44
- MetaSVM -0.25
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases; Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)