R27S (p.Arg27Ser) variant of COMT (Catechol O-methyltransferase)
R27S (p.Arg27Ser) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R27S (p.Arg27Ser) variant details
- p.Arg27Ser
- rs1328870779
- gnomAD 22-19962605-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.224
- CADD 20.20
- Population evidence available
- Structural context available
- Literature evidence available