C112S (p.Cys112Ser) variant of UNC13D (Protein unc-13 homolog D)
C112S (p.Cys112Ser) 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 specified; Familial hemophagocytic lymphohistiocytosis 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
C112S (p.Cys112Ser) variant details
- p.Cys112Ser
- rs141540493
- ClinGen CA8773512
- ClinVar RCV001037027
- ClinVar RCV002222659
- Uncertain significance
- not specified; Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.17
- CADD 23.50
- PolyPhen-2 0.63
- SIFT 0.29
- ClinVar: Uncertain significance (not specified; Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available