E3G (p.Glu3Gly) variant of COMT (Catechol O-methyltransferase)
E3G (p.Glu3Gly) in COMT (Catechol O-methyltransferase) 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, published literature, and structural context.
E3G (p.Glu3Gly) variant details
- p.Glu3Gly
- gnomAD 22-19962534-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.01
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available