I36L (p.Ile36Leu) variant of COMT (Catechol O-methyltransferase)
I36L (p.Ile36Leu) 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 and structural context.
I36L (p.Ile36Leu) variant details
- p.Ile36Leu
- ExAC rs777441922
- TOPMed rs777441922
- gnomAD rs777441922
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.19
- CADD 5.65
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available