Y112C (p.Tyr112Cys) variant of MAOB (P27338)
Y112C (p.Tyr112Cys) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y112C (p.Tyr112Cys) variant details
- p.Tyr112Cys
- gnomAD rs1219565046
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.11
- MetaLR 0.06
- MetaSVM -1.09
- CADD 17.50
- PolyPhen-2 0.74
- SIFT 0.02
- Most common in the East Asian population (allele frequency 3.6e-05)
- Structural context available