E83D (p.Glu83Asp) variant of MAOA (P21397)
E83D (p.Glu83Asp) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E83D (p.Glu83Asp) variant details
- p.Glu83Asp
- TOPMed rs1468915822
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.17
- MetaLR 0.03
- MetaSVM -1.08
- CADD 12.80
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available