E3A (p.Glu3Ala) variant of COMT (Catechol O-methyltransferase)
E3A (p.Glu3Ala) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E3A (p.Glu3Ala) variant details
- p.Glu3Ala
- gnomAD 22-19962534-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -0.98
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available