R16H (p.Arg16His) variant of UNC13D (Protein unc-13 homolog D)
R16H (p.Arg16His) 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 not provided; Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- rs149195431
- ClinGen CA8773692
- ClinVar RCV001965491
- ClinVar RCV003222369
- Uncertain significance
- not provided; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.27
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available