W38* (p.Trp38Ter) variant of COMT (Catechol O-methyltransferase)
W38* (p.Trp38Ter) in COMT (Catechol O-methyltransferase) is a protein-truncating change. 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.
W38* (p.Trp38Ter) variant details
- p.Trp38Ter
- ExAC rs759091417
- gnomAD rs759091417
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.503
- CADD 36.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available