I46S (p.Ile46Ser) variant of COMT (Catechol O-methyltransferase)
I46S (p.Ile46Ser) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I46S (p.Ile46Ser) variant details
- p.Ile46Ser
- ExAC rs762297267
- gnomAD rs762297267
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.18
- CADD 22.20
- PolyPhen-2 0.05
- SIFT 0.00
- Population evidence available
- Structural context available