Y21H (p.Tyr21His) variant of MECOM (Q03112)
Y21H (p.Tyr21His) in MECOM (Q03112) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
Y21H (p.Tyr21His) variant details
- p.Tyr21His
- ExAC rs779455664
- gnomAD rs779455664
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 18.50
- PolyPhen-2 0.09
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)