T35I (p.Thr35Ile) variant of DYSF (Dysferlin)
T35I (p.Thr35Ile) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
T35I (p.Thr35Ile) variant details
- p.Thr35Ile
- gnomAD 2-71480898-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.83
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available