S131R (p.Ser131Arg) variant of MAOB (P27338)
S131R (p.Ser131Arg) in MAOB (P27338) is a missense change. Clinical records from ClinVar, EBI, 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 0.47 / 1. The record also includes population frequency data and structural context.
S131R (p.Ser131Arg) variant details
- p.Ser131Arg
- rs766904222
- ClinGen CA10391283
- ClinVar RCV004416016
- ExAC rs766904222
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.18
- MetaLR 0.54
- MetaSVM -0.04
- PolyPhen-2 0.01
- SIFT 0.52
- MutPred 0.55
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available