I38T (p.Ile38Thr) variant of DYSF (Dysferlin)
I38T (p.Ile38Thr) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- gnomAD 2-71480906-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available