Q44H (p.Gln44His) variant of COMT (Catechol O-methyltransferase)
Q44H (p.Gln44His) 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.
Q44H (p.Gln44His) variant details
- p.Gln44His
- gnomAD 22-19962658-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.18
- MetaLR 0.28
- MetaSVM -0.79
- CADD 13.30
- PolyPhen-2 0.53
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available