R102W (p.Arg102Trp) variant of UNC13D (Protein unc-13 homolog D)
R102W (p.Arg102Trp) 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; not provided; Familial hemophagocytic lymphohistiocytos. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R102W (p.Arg102Trp) variant details
- p.Arg102Trp
- rs749533827
- ClinGen CA8773536
- ClinVar RCV000822629
- ClinVar RCV005772037
- Uncertain significance
- Inborn genetic diseases; not provided; Familial hemophagocytic lymphohistiocytos
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.08
- CADD 21.80
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Familial hemophagocytic l)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)