R3S (p.Arg3Ser) variant of DYSF (Dysferlin)
R3S (p.Arg3Ser) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- rs2152620707
- ClinGen CA347205848
- ClinVar RCV003040143
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 22.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)