N9K (p.Asn9Lys) variant of OPRM1 (Mu-type opioid receptor)
N9K (p.Asn9Lys) in OPRM1 (Mu-type opioid receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
N9K (p.Asn9Lys) variant details
- p.Asn9Lys
- rs745863104
- ExAC rs745863104
- TOPMed rs745863104
- gnomAD rs745863104
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.12
- CADD 8.30
- PolyPhen-2 0.02
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available