P5W (p.Pro5Trp) variant of COMT (Catechol O-methyltransferase)
P5W (p.Pro5Trp) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P5W (p.Pro5Trp) variant details
- p.Pro5Trp
- gnomAD 22-19962534-AGGCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.258
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available