I44F (p.Ile44Phe) variant of MYLK (Q15746)
I44F (p.Ile44Phe) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
I44F (p.Ile44Phe) variant details
- p.Ile44Phe
- gnomAD rs1382060732
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.21
- CADD 20.20
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available