R87C (p.Arg87Cys) variant of MAOB (P27338)
R87C (p.Arg87Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
R87C (p.Arg87Cys) variant details
- p.Arg87Cys
- rs776880004
- NCI-TCGA Cosmic COSV1009
- 1000Genomes rs776880004
- TOPMed rs776880004
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- MetaLR 0.61
- MetaSVM 0.03
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:KHV population (allele frequency 0.0066)
- Structural context available