A36S (p.Ala36Ser) variant of MECOM (Q03112)
A36S (p.Ala36Ser) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- ExAC rs781351398
- TOPMed rs781351398
- gnomAD rs781351398
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 9.40
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)