L80S (p.Leu80Ser) variant of MYLK (Q15746)
L80S (p.Leu80Ser) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L80S (p.Leu80Ser) variant details
- p.Leu80Ser
- rs754578647
- gnomAD 3-123618632-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.92
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available