E39V (p.Glu39Val) variant of UNC13D (Protein unc-13 homolog D)
E39V (p.Glu39Val) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
E39V (p.Glu39Val) variant details
- p.Glu39Val
- TOPMed rs2064970175
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.17
- CADD 32.00
- PolyPhen-2 0.42
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available