P67R (p.Pro67Arg) variant of MECOM (Q03112)
P67R (p.Pro67Arg) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data.
P67R (p.Pro67Arg) variant details
- p.Pro67Arg
- ExAC rs764373815
- gnomAD rs764373815
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 23.10
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)