R52W (p.Arg52Trp) variant of UNC13D (Protein unc-13 homolog D)
R52W (p.Arg52Trp) 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 0.26 / 1. The record also includes population frequency data and structural context.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- rs930596937
- ClinGen CA294090247
- ClinVar RCV002720160
- TOPMed rs930596937
- Uncertain significance
- Inborn genetic diseases; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.14
- CADD 32.00
- PolyPhen-2 0.54
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial hemophagocytic lymphohistiocyt)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available