P49S (p.Pro49Ser) variant of MECOM (Q03112)
P49S (p.Pro49Ser) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- TOPMed rs1732363714
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- CADD 22.10
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)