P5Q (p.Pro5Gln) variant of COMT (Catechol O-methyltransferase)
P5Q (p.Pro5Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P5Q (p.Pro5Gln) variant details
- p.Pro5Gln
- gnomAD 22-19962540-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- MetaLR 0.10
- MetaSVM -1.07
- CADD 12.00
- PolyPhen-2 0.03
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available