Q30* (p.Gln30Ter) variant of UNC13D (Protein unc-13 homolog D)
Q30* (p.Gln30Ter) in UNC13D (Protein unc-13 homolog D) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- ExAC rs780543569
- gnomAD rs780543569
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 37.00
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available