R23K (p.Arg23Lys) variant of MYLK (Q15746)
R23K (p.Arg23Lys) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R23K (p.Arg23Lys) variant details
- p.Arg23Lys
- ExAC rs762603388
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.04
- CADD 6.70
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available