L81V (p.Leu81Val) variant of MYLK (Q15746)
L81V (p.Leu81Val) in MYLK (Q15746) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L81V (p.Leu81Val) variant details
- p.Leu81Val
- rs769809706
- gnomAD 3-123614358-CAG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 15.50
- Most common in the Middle Eastern population (allele frequency 0.00052)
- Structural context available
- Literature evidence available