L7P (p.Leu7Pro) variant of COMT (Catechol O-methyltransferase)
L7P (p.Leu7Pro) 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.
L7P (p.Leu7Pro) variant details
- p.Leu7Pro
- ExAC rs753302283
- TOPMed rs753302283
- gnomAD rs753302283
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.21
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the South Asian population (allele frequency 7.7e-05)
- Structural context available