H47P (p.His47Pro) variant of COMT (Catechol O-methyltransferase)
H47P (p.His47Pro) in COMT (Catechol O-methyltransferase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
H47P (p.His47Pro) variant details
- p.His47Pro
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0913
- REVEL 0.12
- CADD 0.03
- PolyPhen-2 0.06
- SIFT 0.19
- UniProt: Variant assessed as somatic; high impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available