E40K (p.Glu40Lys) variant of COMT (Catechol O-methyltransferase)
E40K (p.Glu40Lys) in COMT (Catechol O-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E40K (p.Glu40Lys) variant details
- p.Glu40Lys
- rs984098043
- gnomAD rs984098043
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.40
- CADD 23.10
- PolyPhen-2 0.41
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available