R36W (p.Arg36Trp) variant of MAOB (P27338)
R36W (p.Arg36Trp) in MAOB (P27338) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R36W (p.Arg36Trp) variant details
- p.Arg36Trp
- rs778570953
- ExAC rs778570953
- TOPMed rs778570953
- gnomAD rs778570953
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.86
- MetaLR 0.93
- MetaSVM 1.02
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available