Y14T (p.Tyr14Thr) variant of DES (Desmin)
Y14T (p.Tyr14Thr) in DES (Desmin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Y14T (p.Tyr14Thr) variant details
- p.Tyr14Thr
- gnomAD 2-219418501-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.42
- CADD 28.70
- Population evidence available
- Structural context available
- Literature evidence available