T30T (p.Thr30Thr) variant of UNC80 (Protein unc-80 homolog)
T30T (p.Thr30Thr) in UNC80 (Protein unc-80 homolog) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T30T (p.Thr30Thr) variant details
- p.Thr30Thr
- rs1298596972
- gnomAD 2-209772162-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.613
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available