G30S (p.Gly30Ser) variant of COMT (Catechol O-methyltransferase)
G30S (p.Gly30Ser) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- 1000Genomes rs139227383
- TOPMed rs139227383
- gnomAD rs139227383
- Missense
- Variant Prioritization Score for Impact Estimate 0.0706
- REVEL 0.08
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available