R58H (p.Arg58His) variant of COMT (Catechol O-methyltransferase)
R58H (p.Arg58His) in COMT (Catechol O-methyltransferase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R58H (p.Arg58His) variant details
- p.Arg58His
- ExAC rs766469681
- TOPMed rs766469681
- gnomAD rs766469681
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.64
- CADD 31.00
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available