Q49E (p.Gln49Glu) variant of MAOB (P27338)
Q49E (p.Gln49Glu) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
Q49E (p.Gln49Glu) variant details
- p.Gln49Glu
- ExAC rs775868592
- gnomAD rs775868592
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.92
- CADD 5.69
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the East Asian population (allele frequency 6.9e-05)
- Structural context available