N39N (p.Asn39Asn) variant of COMT (Catechol O-methyltransferase)
N39N (p.Asn39Asn) in COMT (Catechol O-methyltransferase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
N39N (p.Asn39Asn) variant details
- p.Asn39Asn
- rs74745580
- gnomAD 22-19962643-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0869
- CADD 0.89
- Most common in the HGDP:PATHAN population (allele frequency 0.062)
- Structural context available
- Cited in: Association Between Catechol-O-Methyltransferase (COMT) Gene Polymorphisms, Parkinson's Disease, and Levodopa Efficacy. (PMID 24234932)
- Cited in: Biological effects of COMT haplotypes and psychosis risk in 22q11.2 deletion syndrome. (PMID 23992923)