E142K (p.Glu142Lys) variant of MAOB (P27338)
E142K (p.Glu142Lys) 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.
E142K (p.Glu142Lys) variant details
- p.Glu142Lys
- ESP rs147281288
- ExAC rs147281288
- TOPMed rs147281288
- gnomAD rs147281288
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.33
- MetaLR 0.65
- MetaSVM -0.21
- CADD 22.90
- PolyPhen-2 0.14
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available