R127L (p.Arg127Leu) variant of MAOB (P27338)
R127L (p.Arg127Leu) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R127L (p.Arg127Leu) variant details
- p.Arg127Leu
- ESP rs372591640
- ExAC rs372591640
- TOPMed rs372591640
- gnomAD rs372591640
- Missense
- Variant Prioritization Score for Impact Estimate 0.0959
- REVEL 0.05
- MetaLR 0.03
- MetaSVM -1.01
- CADD 6.55
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available