N39K (p.Asn39Lys) variant of COMT (Catechol O-methyltransferase)
N39K (p.Asn39Lys) in COMT (Catechol O-methyltransferase) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
N39K (p.Asn39Lys) variant details
- p.Asn39Lys
- 1000Genomes rs74745580
- ESP rs74745580
- ExAC rs74745580
- TOPMed rs74745580
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0751
- REVEL 0.08
- CADD 1.40
- PolyPhen-2 0.10
- SIFT 0.10
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available