R16G (p.Arg16Gly) variant of UNC13D (Protein unc-13 homolog D)
R16G (p.Arg16Gly) 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 0.50 / 1. The record also includes population frequency data and structural context.
R16G (p.Arg16Gly) variant details
- p.Arg16Gly
- rs370709761
- ClinGen CA401120387
- ClinVar RCV001936222
- ESP rs370709761
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.30
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (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