E57K (p.Glu57Lys) variant of UNC13D (Protein unc-13 homolog D)
E57K (p.Glu57Lys) 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 0.40 / 1. The record also includes population frequency data and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- rs767617631
- ClinGen CA8773591
- cosmic curated COSV10956
- ClinVar RCV001038916
- Uncertain significance
- Familial hemophagocytic lymphohistiocytosis 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.16
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (Familial hemophagocytic lymphohistiocytosis 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available