T17T (p.Thr17Thr) variant of DYSF (Dysferlin)
T17T (p.Thr17Thr) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T17T (p.Thr17Thr) variant details
- p.Thr17Thr
- rs763030202
- gnomAD 2-71454049-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 14.00
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Literature evidence available