R100S (p.Arg100Ser) variant of MAOB (P27338)
R100S (p.Arg100Ser) 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 0.24 / 1. The record also includes population frequency data and structural context.
R100S (p.Arg100Ser) variant details
- p.Arg100Ser
- ExAC rs767870404
- gnomAD rs767870404
- NCI-TCGA TCGA novel
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.24
- MetaLR 0.42
- MetaSVM -0.65
- CADD 1.54
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.9e-05)
- Structural context available