R78L (p.Arg78Leu) variant of MYLK (Q15746)
R78L (p.Arg78Leu) in MYLK (Q15746) 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 0.40 / 1. The record also includes population frequency data and structural context.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- 1000Genomes rs537615379
- ExAC rs537615379
- TOPMed rs537615379
- gnomAD rs537615379
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.25
- CADD 25.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available