L16P (p.Leu16Pro) variant of COMT (Catechol O-methyltransferase)
L16P (p.Leu16Pro) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- Ensembl rs1942218377
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.52
- CADD 23.20
- PolyPhen-2 0.69
- SIFT 0.19
- Most common in the East Asian population (allele frequency 8.8e-05)
- Structural context available