V20W (p.Val20Trp) variant of COMT (Catechol O-methyltransferase)
V20W (p.Val20Trp) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V20W (p.Val20Trp) variant details
- p.Val20Trp
- rs755100597
- gnomAD 22-19962580-G-GCT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 20.60
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- Literature evidence available