E11K (p.Glu11Lys) variant of UNC80 (Protein unc-80 homolog)
E11K (p.Glu11Lys) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data.
E11K (p.Glu11Lys) variant details
- p.Glu11Lys
- gnomAD rs1267256792
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- MetaLR 0.07
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.5e-05)