E46Q (p.Glu46Gln) variant of MYLK (Q15746)
E46Q (p.Glu46Gln) in MYLK (Q15746) is a missense change. 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.
E46Q (p.Glu46Gln) variant details
- p.Glu46Gln
- ExAC rs781555652
- gnomAD rs781555652
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.14
- CADD 23.90
- PolyPhen-2 0.87
- SIFT 0.14
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available