T30N (p.Thr30Asn) variant of UNC80 (Protein unc-80 homolog)
T30N (p.Thr30Asn) 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, published literature, and structural context.
T30N (p.Thr30Asn) variant details
- p.Thr30Asn
- gnomAD 2-209772161-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- MetaLR 0.15
- MetaSVM -0.85
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available