S6C (p.Ser6Cys) variant of UNC80 (Protein unc-80 homolog)
S6C (p.Ser6Cys) in UNC80 (Protein unc-80 homolog) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- gnomAD 2-209772088-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- MetaLR 0.15
- MetaSVM -0.85
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Literature evidence available