N12S (p.Asn12Ser) variant of OPRM1 (Mu-type opioid receptor)
N12S (p.Asn12Ser) in OPRM1 (Mu-type opioid receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N12S (p.Asn12Ser) variant details
- p.Asn12Ser
- rs199645285
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10000
- Ensembl rs199645285
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.14
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available