S200L (p.Ser200Leu) variant of MAOB (P27338)
S200L (p.Ser200Leu) 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 0.79 / 1. The record also includes population frequency data and structural context.
S200L (p.Ser200Leu) variant details
- p.Ser200Leu
- rs12850496
- NCI-TCGA Cosmic COSV6520
- 1000Genomes rs12850496
- ExAC rs12850496
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.82
- MetaLR 0.85
- MetaSVM 0.81
- CADD 25.20
- PolyPhen-2 0.87
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CDX population (allele frequency 0.015)
- Structural context available