C43R (p.Cys43Arg) variant of MYLK (Q15746)
C43R (p.Cys43Arg) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
C43R (p.Cys43Arg) variant details
- p.Cys43Arg
- ExAC rs750867972
- gnomAD rs750867972
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.36
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available