R23C (p.Arg23Cys) variant of UNC13D (Protein unc-13 homolog D)
R23C (p.Arg23Cys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R23C (p.Arg23Cys) variant details
- p.Arg23Cys
- rs575632298
- ClinGen CA294091606
- ClinVar RCV002035724
- ClinVar RCV006396861
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.25
- CADD 29.20
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)