A78V (p.Ala78Val) variant of UNC13D (Protein unc-13 homolog D)
A78V (p.Ala78Val) in UNC13D (Protein unc-13 homolog D) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- ExAC rs758450528
- TOPMed rs758450528
- gnomAD rs758450528
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.04
- CADD 18.50
- PolyPhen-2 0.05
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available