p.Val20 Leu23del variant of COMT (Catechol O-methyltransferase)
p.Val20 Leu23del in COMT (Catechol O-methyltransferase) is a missense 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.
p.Val20 Leu23del variant details
- rs1942218448
- gnomAD 22-19962572-CTGGT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 16.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available