R58C (p.Arg58Cys) variant of COMT (Catechol O-methyltransferase)
R58C (p.Arg58Cys) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- cosmic curated COSV52889
- TOPMed rs1480698560
- gnomAD rs1480698560
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.64
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available