G58R (p.Gly58Arg) variant of MYLK (Q15746)
G58R (p.Gly58Arg) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G58R (p.Gly58Arg) variant details
- p.Gly58Arg
- TOPMed rs1213091943
- gnomAD rs1213091943
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.82
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available