p.Gly17 Ile18insAspArgAlaGlySerC variant of UNC80 (Protein unc-80 homolog)
p.Gly17 Ile18insAspArgAlaGlySerC in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
p.Gly17 Ile18insAspArgAlaGlySerC variant details
- gnomAD 2-209772119-G-GAG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 18.60
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Literature evidence available