F79L (p.Phe79Leu) variant of MYLK (Q15746)
F79L (p.Phe79Leu) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F79L (p.Phe79Leu) variant details
- p.Phe79Leu
- gnomAD rs1301337646
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.40
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available