V20L (p.Val20Leu) variant of COMT (Catechol O-methyltransferase)
V20L (p.Val20Leu) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- TOPMed rs559479480
- gnomAD rs559479480
- cosmic curated COSV52889
- Missense
- Variant Prioritization Score for Impact Estimate 0.0715
- REVEL 0.07
- CADD 1.71
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available