K51M (p.Lys51Met) variant of MYLK (Q15746)
K51M (p.Lys51Met) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K51M (p.Lys51Met) variant details
- p.Lys51Met
- rs1272266347
- gnomAD 3-123618635-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 22.20
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available