C24G (p.Cys24Gly) variant of DYSF (Dysferlin)
C24G (p.Cys24Gly) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
C24G (p.Cys24Gly) variant details
- p.Cys24Gly
- gnomAD 2-71466849-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.16
- CADD 24.10
- PolyPhen-2 0.06
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available