R38C (p.Arg38Cys) variant of MAOB (P27338)
R38C (p.Arg38Cys) 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.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- ExAC rs778871584
- TOPMed rs778871584
- gnomAD rs778871584
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.91
- MetaLR 0.94
- MetaSVM 1.08
- CADD 25.50
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.6e-05)
- Structural context available