E94D (p.Glu94Asp) variant of UNC13D (Protein unc-13 homolog D)
E94D (p.Glu94Asp) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E94D (p.Glu94Asp) variant details
- p.Glu94Asp
- TOPMed rs2064960363
- gnomAD rs2064960363
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.02
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available