P2Q (p.Pro2Gln) variant of COMT (Catechol O-methyltransferase)
P2Q (p.Pro2Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P2Q (p.Pro2Gln) variant details
- p.Pro2Gln
- gnomAD 22-19962531-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0939
- REVEL 0.03
- MetaLR 0.12
- MetaSVM -0.99
- CADD 7.69
- PolyPhen-2 0.04
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available