S20R (p.Ser20Arg) variant of DYSF (Dysferlin)
S20R (p.Ser20Arg) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- gnomAD 2-71454058-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- CADD 27.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available