Q57K (p.Gln57Lys) variant of COMT (Catechol O-methyltransferase)
Q57K (p.Gln57Lys) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
Q57K (p.Gln57Lys) variant details
- p.Gln57Lys
- ExAC rs756145905
- gnomAD rs756145905
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available