G130E (p.Gly130Glu) variant of UNC13D (Protein unc-13 homolog D)
G130E (p.Gly130Glu) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G130E (p.Gly130Glu) variant details
- p.Gly130Glu
- rs747840374
- ClinGen CA8773489
- ClinVar RCV002701020
- ClinVar RCV003167647
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.51
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)