E3V (p.Glu3Val) variant of COMT (Catechol O-methyltransferase)
E3V (p.Glu3Val) 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 and structural context.
E3V (p.Glu3Val) variant details
- p.Glu3Val
- gnomAD rs1164904803
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.13
- CADD 13.40
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.9e-06)
- Structural context available