P46L (p.Pro46Leu) variant of MECOM (Q03112)
P46L (p.Pro46Leu) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data.
P46L (p.Pro46Leu) variant details
- p.Pro46Leu
- ESP rs376185183
- TOPMed rs376185183
- gnomAD rs376185183
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)