Q44K (p.Gln44Lys) variant of COMT (Catechol O-methyltransferase)
Q44K (p.Gln44Lys) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
Q44K (p.Gln44Lys) variant details
- p.Gln44Lys
- gnomAD 22-19962656-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.05
- MetaLR 0.13
- MetaSVM -1.03
- CADD 2.98
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available