R66H (p.Arg66His) variant of UNC13D (Protein unc-13 homolog D)
R66H (p.Arg66His) 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 0.64 / 1. The record also includes population frequency data and structural context.
R66H (p.Arg66His) variant details
- p.Arg66His
- rs371943727
- ClinGen CA8773586
- ClinVar RCV001305031
- ClinVar RCV004692457
- Uncertain significance
- not provided; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.52
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available