R38H (p.Arg38His) variant of MAOB (P27338)
R38H (p.Arg38His) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- ExAC rs17856663
- TOPMed rs17856663
- gnomAD rs17856663
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.89
- MetaLR 0.95
- MetaSVM 1.09
- CADD 24.10
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available