T166A (p.Thr166Ala) variant of MAOB (P27338)
T166A (p.Thr166Ala) in MAOB (P27338) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
T166A (p.Thr166Ala) variant details
- p.Thr166Ala
- ESP rs138342360
- ExAC rs138342360
- TOPMed rs138342360
- gnomAD rs138342360
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.34
- MetaLR 0.58
- MetaSVM -0.14
- CADD 17.40
- PolyPhen-2 0.03
- SIFT 0.80
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available