H96Q (p.His96Gln) variant of UNC13D (Protein unc-13 homolog D)
H96Q (p.His96Gln) 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 Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
H96Q (p.His96Gln) variant details
- p.His96Gln
- rs2545987898
- ClinGen CA401116053
- ClinVar RCV003034855
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.17
- CADD 22.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available