Y18H (p.Tyr18His) variant of MECOM (Q03112)
Y18H (p.Tyr18His) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
Y18H (p.Tyr18His) variant details
- p.Tyr18His
- ExAC rs768464136
- TOPMed rs768464136
- gnomAD rs768464136
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 22.80
- PolyPhen-2 0.66
- SIFT 0.10
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)