G14D (p.Gly14Asp) variant of UNC80 (Protein unc-80 homolog)
G14D (p.Gly14Asp) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD 2-209772113-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- MetaLR 0.03
- MetaSVM -1.07
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Literature evidence available