G30D (p.Gly30Asp) variant of COMT (Catechol O-methyltransferase)
G30D (p.Gly30Asp) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
G30D (p.Gly30Asp) variant details
- p.Gly30Asp
- gnomAD 22-19962615-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -1.00
- CADD 3.31
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available