V12L (p.Val12Leu) variant of COMT (Catechol O-methyltransferase)
V12L (p.Val12Leu) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- gnomAD 22-19962560-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.29
- MetaLR 0.12
- MetaSVM -1.06
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available