R36Q (p.Arg36Gln) variant of MAOB (P27338)
R36Q (p.Arg36Gln) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R36Q (p.Arg36Gln) variant details
- p.Arg36Gln
- ExAC rs756887426
- TOPMed rs756887426
- gnomAD rs756887426
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.65
- MetaLR 0.85
- MetaSVM 0.84
- CADD 23.50
- PolyPhen-2 0.51
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available