G30A (p.Gly30Ala) variant of COMT (Catechol O-methyltransferase)
G30A (p.Gly30Ala) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- gnomAD rs1363253427
- Missense
- Variant Prioritization Score for Impact Estimate 0.0597
- REVEL 0.05
- CADD 0.75
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available