F56L (p.Phe56Leu) variant of MECOM (Q03112)
F56L (p.Phe56Leu) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
F56L (p.Phe56Leu) variant details
- p.Phe56Leu
- ExAC rs749033118
- gnomAD rs749033118
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the South Asian population (allele frequency 4.6e-05)