D31E (p.Asp31Glu) variant of UNC13D (Protein unc-13 homolog D)
D31E (p.Asp31Glu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D31E (p.Asp31Glu) variant details
- p.Asp31Glu
- ExAC rs754691045
- TOPMed rs754691045
- gnomAD rs754691045
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.097
- REVEL 0.06
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available