Y80C (p.Tyr80Cys) variant of MAOB (P27338)
Y80C (p.Tyr80Cys) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y80C (p.Tyr80Cys) variant details
- p.Tyr80Cys
- gnomAD rs1280271793
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.87
- MetaLR 0.87
- MetaSVM 0.94
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available