P109L (p.Pro109Leu) variant of MAOB (P27338)
P109L (p.Pro109Leu) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P109L (p.Pro109Leu) variant details
- p.Pro109Leu
- 1000Genomes rs149395667
- ESP rs149395667
- ExAC rs149395667
- TOPMed rs149395667
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.84
- MetaLR 0.82
- MetaSVM 0.64
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.03
- Most common in the 1KG:GBR population (allele frequency 0.0078)
- Structural context available