A48D (p.Ala48Asp) variant of MYLK (Q15746)
A48D (p.Ala48Asp) in MYLK (Q15746) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- Ensembl rs1060502537
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available