E616G (p.Glu616Gly) variant of UNC13D (Protein unc-13 homolog D)
E616G (p.Glu616Gly) 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; Familial hemophagocytic lymphohisti. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E616G (p.Glu616Gly) variant details
- p.Glu616Gly
- rs754621494
- ClinGen CA401092049
- ClinVar RCV000514775
- ClinVar RCV001778988
- Pathogenic
- Familial hemophagocytic lymphohistiocytosis; Familial hemophagocytic lymphohisti
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.11
- CADD 33.00
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Pathogenic (Familial hemophagocytic lymphohistiocytosis; Familial hemophagoc)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Familial Hemophagocytic Lymphohistiocytosis. (PMID 20301617)