E3D (p.Glu3Asp) variant of COMT (Catechol O-methyltransferase)
E3D (p.Glu3Asp) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E3D (p.Glu3Asp) variant details
- p.Glu3Asp
- gnomAD 22-19962535-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -1.03
- CADD 3.85
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available