R16W (p.Arg16Trp) variant of DBH (Dopamine beta-hydroxylase)
R16W (p.Arg16Trp) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- rs13306306
- NCI-TCGA Cosmic COSV5504
- ExAC rs13306306
- TOPMed rs13306306
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.20
- MetaLR 0.09
- MetaSVM -1.01
- CADD 9.73
- PolyPhen-2 0.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available