L81R (p.Leu81Arg) variant of MYLK (Q15746)
L81R (p.Leu81Arg) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L81R (p.Leu81Arg) variant details
- p.Leu81Arg
- gnomAD 3-123614359-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available