S20T (p.Ser20Thr) variant of DYSF (Dysferlin)
S20T (p.Ser20Thr) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S20T (p.Ser20Thr) variant details
- p.Ser20Thr
- rs1420619668
- gnomAD 2-71454055-CAGCGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.655
- CADD 32.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available