S20I (p.Ser20Ile) variant of DYSF (Dysferlin)
S20I (p.Ser20Ile) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- gnomAD 2-71466883-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.11
- CADD 15.90
- PolyPhen-2 0.12
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available