K51R (p.Lys51Arg) variant of MYLK (Q15746)
K51R (p.Lys51Arg) 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 and structural context.
K51R (p.Lys51Arg) variant details
- p.Lys51Arg
- ExAC rs753454689
- gnomAD rs753454689
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.06
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available