T35T (p.Thr35Thr) variant of DYSF (Dysferlin)
T35T (p.Thr35Thr) in DYSF (Dysferlin) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T35T (p.Thr35Thr) variant details
- p.Thr35Thr
- rs749854198
- gnomAD 2-71480899-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 9.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available