Q57R (p.Gln57Arg) variant of COMT (Catechol O-methyltransferase)
Q57R (p.Gln57Arg) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q57R (p.Gln57Arg) variant details
- p.Gln57Arg
- Ensembl rs2146165136
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.36
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available