C24R (p.Cys24Arg) variant of DYSF (Dysferlin)
C24R (p.Cys24Arg) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C24R (p.Cys24Arg) variant details
- p.Cys24Arg
- gnomAD 2-71454068-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available