G41S (p.Gly41Ser) variant of MAOB (P27338)
G41S (p.Gly41Ser) 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 0.83 / 1. The record also includes population frequency data and structural context.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- rs2519259197
- ClinGen CA413010637
- ClinVar RCV004351700
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.834
- REVEL 0.92
- MetaLR 0.80
- MetaSVM 0.86
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available