V96L (p.Val96Leu) variant of MYLK (Q15746)
V96L (p.Val96Leu) in MYLK (Q15746) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V96L (p.Val96Leu) variant details
- p.Val96Leu
- TOPMed rs1162837317
- gnomAD rs1162837317
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.28
- CADD 24.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available