R127Q (p.Arg127Gln) variant of MAOB (P27338)
R127Q (p.Arg127Gln) 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.
R127Q (p.Arg127Gln) variant details
- p.Arg127Gln
- ESP rs372591640
- ExAC rs372591640
- TOPMed rs372591640
- gnomAD rs372591640
- Missense
- Variant Prioritization Score for Impact Estimate 0.0951
- REVEL 0.07
- MetaLR 0.02
- MetaSVM -0.98
- CADD 3.87
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available