E219K (p.Glu219Lys) variant of MAOB (P27338)
E219K (p.Glu219Lys) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E219K (p.Glu219Lys) variant details
- p.Glu219Lys
- ExAC rs750363747
- gnomAD rs750363747
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.29
- MetaLR 0.04
- MetaSVM -1.08
- CADD 20.40
- PolyPhen-2 0.15
- SIFT 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available