K51V (p.Lys51Val) variant of MYLK (Q15746)
K51V (p.Lys51Val) in MYLK (Q15746) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K51V (p.Lys51Val) variant details
- p.Lys51Val
- gnomAD 3-123618634-CTT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 23.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available