E3K (p.Glu3Lys) variant of COMT (Catechol O-methyltransferase)
E3K (p.Glu3Lys) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- ExAC rs759181324
- gnomAD rs759181324
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.09
- CADD 21.40
- PolyPhen-2 0.11
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available