G54V (p.Gly54Val) variant of MYLK (Q15746)
G54V (p.Gly54Val) 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.
G54V (p.Gly54Val) variant details
- p.Gly54Val
- ExAC rs767453947
- TOPMed rs767453947
- gnomAD rs767453947
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available