R27E (p.Arg27Glu) variant of COMT (Catechol O-methyltransferase)
R27E (p.Arg27Glu) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
R27E (p.Arg27Glu) variant details
- p.Arg27Glu
- rs1942220061
- gnomAD 22-19962603-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.509
- CADD 22.40
- Population evidence available
- Structural context available
- Literature evidence available