Q12E (p.Gln12Glu) variant of UNC80 (Protein unc-80 homolog)
Q12E (p.Gln12Glu) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- gnomAD rs1431960407
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- MetaLR 0.06
- MetaSVM -1.10
- CADD 17.90
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.8e-05)