R220Q (p.Arg220Gln) variant of MAOB (P27338)
R220Q (p.Arg220Gln) 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 0.43 / 1. The record also includes population frequency data and structural context.
R220Q (p.Arg220Gln) variant details
- p.Arg220Gln
- rs980435225
- NCI-TCGA Cosmic COSV1009
- TOPMed rs980435225
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.34
- MetaLR 0.61
- MetaSVM -0.26
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available