L50F (p.Leu50Phe) variant of COMT (Catechol O-methyltransferase)
L50F (p.Leu50Phe) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
L50F (p.Leu50Phe) variant details
- p.Leu50Phe
- Ensembl rs2146165053
- Missense
- Variant Prioritization Score for Impact Estimate 0.0751
- REVEL 0.07
- CADD 3.21
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available