S6F (p.Ser6Phe) variant of UNC13D (Protein unc-13 homolog D)
S6F (p.Ser6Phe) 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 record also includes structural context.
S6F (p.Ser6Phe) variant details
- p.Ser6Phe
- rs2143904920
- ClinGen CA401120588
- ClinVar RCV001951699
- Ensembl rs2143904920
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available