E50K (p.Glu50Lys) variant of UNC13D (Protein unc-13 homolog D)
E50K (p.Glu50Lys) in UNC13D (Protein unc-13 homolog D) is a missense change. Clinical records from ClinVar 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 0.21 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- ExAC rs756652448
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.12
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available