I73M (p.Ile73Met) variant of MYLK (Q15746)
I73M (p.Ile73Met) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I73M (p.Ile73Met) variant details
- p.Ile73Met
- ExAC rs767065648
- gnomAD rs767065648
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.31
- CADD 21.90
- PolyPhen-2 0.91
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available