V12F (p.Val12Phe) variant of DYSF (Dysferlin)
V12F (p.Val12Phe) in DYSF (Dysferlin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
V12F (p.Val12Phe) variant details
- p.Val12Phe
- rs2466863357
- ClinGen CA347206070
- ClinVar RCV003575138
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dysferlinopathy. (PMID 20301480)