R414C (p.Arg414Cys) variant of UNC13D (Protein unc-13 homolog D)
R414C (p.Arg414Cys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial hemophagocytic lymphohistiocytosis; Familial hemophagocytic lymphohisti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R414C (p.Arg414Cys) variant details
- p.Arg414Cys
- rs750811263
- ClinGen CA8773066
- cosmic curated COSV52883
- ClinVar RCV000640099
- Pathogenic/Likely pathogenic
- Familial hemophagocytic lymphohistiocytosis; Familial hemophagocytic lymphohisti
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- REVEL 0.84
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hemophagocytic lymphohistiocytosis; Familial hemophagoc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Familial Hemophagocytic Lymphohistiocytosis. (PMID 20301617)