E94K (p.Glu94Lys) variant of UNC13D (Protein unc-13 homolog D)
E94K (p.Glu94Lys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
E94K (p.Glu94Lys) variant details
- p.Glu94Lys
- rs537781874
- ClinGen CA8773541
- ClinVar RCV001050153
- ClinVar RCV005286287
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.12
- CADD 6.97
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)