E50Q (p.Glu50Gln) variant of UNC13D (Protein unc-13 homolog D)
E50Q (p.Glu50Gln) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E50Q (p.Glu50Gln) variant details
- p.Glu50Gln
- ExAC rs756652448
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.07
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available