E56K (p.Glu56Lys) variant of COMT (Catechol O-methyltransferase)
E56K (p.Glu56Lys) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E56K (p.Glu56Lys) variant details
- p.Glu56Lys
- TOPMed rs1243773629
- gnomAD rs1243773629
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.53
- CADD 29.10
- PolyPhen-2 0.97
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available