R67H (p.Arg67His) variant of MAOB (P27338)
R67H (p.Arg67His) 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 0.50 / 1. The record also includes population frequency data and structural context.
R67H (p.Arg67His) variant details
- p.Arg67His
- rs755689863
- NCI-TCGA Cosmic COSV6520
- ExAC rs755689863
- TOPMed rs755689863
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.39
- MetaLR 0.68
- MetaSVM 0.09
- CADD 17.30
- PolyPhen-2 0.07
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00017)
- Structural context available