S59A (p.Ser59Ala) variant of MAOB (P27338)
S59A (p.Ser59Ala) 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 0.43 / 1. The record also includes population frequency data and structural context.
S59A (p.Ser59Ala) variant details
- p.Ser59Ala
- rs201981141
- ClinGen CA10391338
- ClinVar RCV004082148
- ESP rs201981141
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.26
- MetaLR 0.37
- MetaSVM -0.63
- CADD 11.20
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.8e-05)
- Structural context available