R414L (p.Arg414Leu) variant of UNC13D (Protein unc-13 homolog D)
R414L (p.Arg414Leu) 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 3; Familial hemophagocytic lymphohis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R414L (p.Arg414Leu) variant details
- p.Arg414Leu
- rs768171054
- ClinGen CA8773065
- ClinVar RCV003497345
- ClinVar RCV004719354
- Pathogenic/Likely pathogenic
- Familial hemophagocytic lymphohistiocytosis 3; Familial hemophagocytic lymphohis
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.63
- CADD 25.40
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hemophagocytic lymphohistiocytosis 3; Familial hemophag)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Familial Hemophagocytic Lymphohistiocytosis. (PMID 20301617)