S20V (p.Ser20Val) variant of DYSF (Dysferlin)
S20V (p.Ser20Val) in DYSF (Dysferlin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
S20V (p.Ser20Val) variant details
- p.Ser20Val
- rs1296020223
- gnomAD 2-71466877-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.594
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available