P5R (p.Pro5Arg) variant of COMT (Catechol O-methyltransferase)
P5R (p.Pro5Arg) in COMT (Catechol O-methyltransferase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- gnomAD 22-19962536-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 15.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available