C112R (p.Cys112Arg) variant of UNC13D (Protein unc-13 homolog D)
C112R (p.Cys112Arg) 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 0.42 / 1. The record also includes population frequency data and structural context.
C112R (p.Cys112Arg) variant details
- p.Cys112Arg
- rs771709162
- ClinGen CA8773513
- ClinVar RCV001209487
- ExAC rs771709162
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.23
- CADD 32.00
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available