P58A (p.Pro58Ala) variant of MECOM (Q03112)
P58A (p.Pro58Ala) 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.
P58A (p.Pro58Ala) variant details
- p.Pro58Ala
- ExAC rs777557842
- TOPMed rs777557842
- gnomAD rs777557842
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 22.10
- PolyPhen-2 0.18
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)