R3K (p.Arg3Lys) variant of DYSF (Dysferlin)
R3K (p.Arg3Lys) 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 0.65 / 1. The record also includes population frequency data and structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- rs886043856
- ClinGen CA10606034
- ClinVar RCV000329343
- TOPMed rs886043856
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 23.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available