R11C (p.Arg11Cys) variant of UNC13D (Protein unc-13 homolog D)
R11C (p.Arg11Cys) 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 0.43 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- rs373721287
- ClinGen CA8773697
- cosmic curated COSV99256
- ClinVar RCV002623270
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.31
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available