P2L (p.Pro2Leu) variant of COMT (Catechol O-methyltransferase)
P2L (p.Pro2Leu) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- 1000Genomes rs551312068
- ExAC rs551312068
- TOPMed rs551312068
- gnomAD rs551312068
- Missense
- Variant Prioritization Score for Impact Estimate 0.0735
- REVEL 0.06
- CADD 2.02
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available