C83R (p.Cys83Arg) variant of MYLK (Q15746)
C83R (p.Cys83Arg) in MYLK (Q15746) is a missense 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.
C83R (p.Cys83Arg) variant details
- p.Cys83Arg
- gnomAD 3-123614372-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 6.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available