P5L (p.Pro5Leu) variant of COMT (Catechol O-methyltransferase)
P5L (p.Pro5Leu) in COMT (Catechol O-methyltransferase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as drug response in the context of Tramadol response. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- rs1160435070
- ClinGen CA410688400
- ClinVar RCV001028893
- TOPMed rs1160435070
- drug response
- Tramadol response
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.08
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: drug response (Tramadol response)
- EBI: Drug response
- UniProt: Drug response
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available