E53Q (p.Glu53Gln) variant of MYLK (Q15746)
E53Q (p.Glu53Gln) 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 0.41 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- ESP rs376586087
- ExAC rs376586087
- TOPMed rs376586087
- gnomAD rs376586087
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.14
- CADD 23.60
- PolyPhen-2 0.73
- SIFT 0.13
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available