R67C (p.Arg67Cys) variant of MAOB (P27338)
R67C (p.Arg67Cys) 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 0.55 / 1. The record also includes population frequency data and structural context.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- rs777268698
- NCI-TCGA Cosmic COSV1009
- NCI-TCGA Cosmic COSV6520
- ExAC rs777268698
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.58
- MetaLR 0.82
- MetaSVM 0.68
- CADD 23.10
- PolyPhen-2 0.04
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available