A161S (p.Ala161Ser) variant of MAOB (P27338)
A161S (p.Ala161Ser) in MAOB (P27338) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A161S (p.Ala161Ser) variant details
- p.Ala161Ser
- rs143909840
- ClinGen CA10391258
- ClinVar RCV004231426
- ClinVar RCV004696262
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.34
- MetaLR 0.74
- MetaSVM 0.01
- CADD 7.59
- PolyPhen-2 0.06
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HAZARA population (allele frequency 0.067)
- Structural context available