T17T (p.Thr17Thr) variant of DES (Desmin)
T17T (p.Thr17Thr) in DES (Desmin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
T17T (p.Thr17Thr) variant details
- p.Thr17Thr
- gnomAD 2-219418513-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 13.70
- Population evidence available
- Structural context available
- Literature evidence available