H28Q (p.His28Gln) variant of COMT (Catechol O-methyltransferase)
H28Q (p.His28Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- gnomAD 22-19962610-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.94
- CADD 9.43
- PolyPhen-2 0.01
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available