G84R (p.Gly84Arg) variant of MYLK (Q15746)
G84R (p.Gly84Arg) 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 0.31 / 1. The record also includes population frequency data and structural context.
G84R (p.Gly84Arg) variant details
- p.Gly84Arg
- 1000Genomes rs568619953
- ExAC rs568619953
- TOPMed rs568619953
- gnomAD rs568619953
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.33
- CADD 17.80
- PolyPhen-2 0.84
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available