p.Tyr14 Thr17del variant of DES (Desmin)
p.Tyr14 Thr17del in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
p.Tyr14 Thr17del variant details
- rs1954359744
- gnomAD 2-219418499-TCCTA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 22.60
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available