N39D (p.Asn39Asp) variant of COMT (Catechol O-methyltransferase)
N39D (p.Asn39Asp) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N39D (p.Asn39Asp) variant details
- p.Asn39Asp
- cosmic curated COSV52889
- ExAC rs75012854
- TOPMed rs75012854
- gnomAD rs75012854
- Missense
- Variant Prioritization Score for Impact Estimate 0.0889
- REVEL 0.08
- CADD 6.49
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 0.00049)
- Structural context available