V17L (p.Val17Leu) variant of COMT (Catechol O-methyltransferase)
V17L (p.Val17Leu) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- gnomAD 22-19962575-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.06
- MetaLR 0.14
- MetaSVM -1.04
- CADD 2.96
- PolyPhen-2 0.00
- SIFT 0.82
- Population evidence available
- Structural context available
- Literature evidence available