T14T (p.Thr14Thr) variant of DYSF (Dysferlin)
T14T (p.Thr14Thr) in DYSF (Dysferlin) 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.
T14T (p.Thr14Thr) variant details
- p.Thr14Thr
- rs1017462889
- gnomAD 2-71454040-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 9.65
- Population evidence available
- Structural context available
- Literature evidence available