C83F (p.Cys83Phe) variant of MYLK (Q15746)
C83F (p.Cys83Phe) in MYLK (Q15746) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
C83F (p.Cys83Phe) variant details
- p.Cys83Phe
- rs2108881147
- ClinGen CA354244734
- ClinVar RCV001799911
- Ensembl rs2108881147
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available