T14A (p.Thr14Ala) variant of OPRM1 (Mu-type opioid receptor)
T14A (p.Thr14Ala) 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 0.14 / 1. The record also includes population frequency data and structural context.
T14A (p.Thr14Ala) variant details
- p.Thr14Ala
- TOPMed rs894934906
- gnomAD rs894934906
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.12
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available