K59M (p.Lys59Met) variant of MECOM (Q03112)
K59M (p.Lys59Met) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
K59M (p.Lys59Met) variant details
- p.Lys59Met
- gnomAD rs1315052718
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 24.60
- PolyPhen-2 0.79
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2.3e-05)