S218T (p.Ser218Thr) variant of MAOB (P27338)
S218T (p.Ser218Thr) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S218T (p.Ser218Thr) variant details
- p.Ser218Thr
- 1000Genomes rs746209846
- ExAC rs746209846
- gnomAD rs746209846
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.19
- MetaLR 0.06
- MetaSVM -1.09
- CADD 12.50
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the 1KG:KHV population (allele frequency 0.013)
- Structural context available