T196A (p.Thr196Ala) variant of MAOB (P27338)
T196A (p.Thr196Ala) 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 0.24 / 1. The record also includes population frequency data and structural context.
T196A (p.Thr196Ala) variant details
- p.Thr196Ala
- TOPMed rs988819611
- gnomAD rs988819611
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.20
- MetaLR 0.47
- MetaSVM -0.59
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.8e-05)
- Structural context available