F124L (p.Phe124Leu) variant of ANKRD1 (Q15327)
F124L (p.Phe124Leu) in ANKRD1 (Q15327) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
F124L (p.Phe124Leu) variant details
- p.Phe124Leu
- ExAC rs750012924
- TOPMed rs750012924
- gnomAD rs750012924
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.44
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available