C34V (p.Cys34Val) variant of COMT (Catechol O-methyltransferase)
C34V (p.Cys34Val) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
C34V (p.Cys34Val) variant details
- p.Cys34Val
- rs777507390
- gnomAD 22-19962623-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.60
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available