A36G (p.Ala36Gly) variant of MECOM (Q03112)
A36G (p.Ala36Gly) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
A36G (p.Ala36Gly) variant details
- p.Ala36Gly
- 1000Genomes rs537331052
- ExAC rs537331052
- gnomAD rs537331052
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 5.47
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the 1KG:PEL population (allele frequency 0.0059)