T35K (p.Thr35Lys) variant of DYSF (Dysferlin)
T35K (p.Thr35Lys) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T35K (p.Thr35Lys) variant details
- p.Thr35Lys
- gnomAD 2-71480893-G-GAGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.496
- CADD 29.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available