R220W (p.Arg220Trp) variant of MAOB (P27338)
R220W (p.Arg220Trp) in MAOB (P27338) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R220W (p.Arg220Trp) variant details
- p.Arg220Trp
- rs1470898078
- NCI-TCGA Cosmic COSV6520
- TOPMed rs1470898078
- gnomAD rs1470898078
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.54
- MetaLR 0.85
- MetaSVM 0.64
- CADD 25.40
- PolyPhen-2 0.85
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available