S7F (p.Ser7Phe) variant of UNC80 (Protein unc-80 homolog)
S7F (p.Ser7Phe) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
S7F (p.Ser7Phe) variant details
- p.Ser7Phe
- ExAC rs749772824
- TOPMed rs749772824
- gnomAD rs749772824
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- MetaLR 0.05
- MetaSVM -1.07
- CADD 21.90
- PolyPhen-2 0.14
- SIFT 0.13
- Most common in the Ashkenazi Jewish population (allele frequency 0.0014)