A36T (p.Ala36Thr) variant of MECOM (Q03112)
A36T (p.Ala36Thr) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- ExAC rs781351398
- TOPMed rs781351398
- gnomAD rs781351398
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)