H47Q (p.His47Gln) variant of COMT (Catechol O-methyltransferase)
H47Q (p.His47Gln) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H47Q (p.His47Gln) variant details
- p.His47Gln
- gnomAD 22-19962667-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.09
- MetaLR 0.16
- MetaSVM -1.01
- CADD 0.66
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available