S20G (p.Ser20Gly) variant of DYSF (Dysferlin)
S20G (p.Ser20Gly) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- rs1317110085
- gnomAD 2-71466882-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.07
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available