A1018D (p.Ala1018Asp) variant of UNC13D (Protein unc-13 homolog D)
A1018D (p.Ala1018Asp) 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; not provided; Familial hemophagoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
A1018D (p.Ala1018Asp) variant details
- p.Ala1018Asp
- rs778829355
- ClinGen CA8772291
- ClinVar RCV002508863
- ClinVar RCV002574720
- Pathogenic/Likely pathogenic
- Familial hemophagocytic lymphohistiocytosis 3; not provided; Familial hemophagoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.81
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Familial hemophagocytic lymphohistiocytosis 3; not provided; Fam)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Familial Hemophagocytic Lymphohistiocytosis. (PMID 20301617)