P67S (p.Pro67Ser) variant of MECOM (Q03112)
P67S (p.Pro67Ser) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- 1000Genomes rs565742596
- ExAC rs565742596
- gnomAD rs565742596
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- CADD 21.80
- PolyPhen-2 0.19
- SIFT 0.08
- Most common in the 1KG:ITU population (allele frequency 0.0049)