E8Q (p.Glu8Gln) variant of UNC80 (Protein unc-80 homolog)
E8Q (p.Glu8Gln) in UNC80 (Protein unc-80 homolog) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- TOPMed rs1197659901
- gnomAD rs1197659901
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- MetaLR 0.05
- MetaSVM -1.08
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)