R66L (p.Arg66Leu) variant of UNC13D (Protein unc-13 homolog D)
R66L (p.Arg66Leu) 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 Inborn genetic diseases; Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R66L (p.Arg66Leu) variant details
- p.Arg66Leu
- rs371943727
- ClinGen CA10650176
- ClinVar RCV000371614
- ClinVar RCV006386808
- Uncertain significance
- Inborn genetic diseases; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.59
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial hemophagocytic lymphohistiocyt)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)