L403P (p.Leu403Pro) variant of UNC13D (Protein unc-13 homolog D)
L403P (p.Leu403Pro) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Familial hemophagocytic lymphohistiocytosis. 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.
L403P (p.Leu403Pro) variant details
- p.Leu403Pro
- rs121434353
- ClinGen CA252035
- ClinVar RCV000002079
- ClinVar RCV005430913
- Pathogenic
- Familial hemophagocytic lymphohistiocytosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.73
- CADD 27.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Pathogenic (Familial hemophagocytic lymphohistiocytosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Cited in: Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of… (PMID 16278825)
- Cited in: Familial Hemophagocytic Lymphohistiocytosis. (PMID 20301617)