S9R (p.Ser9Arg) variant of DBH (Dopamine beta-hydroxylase)
S9R (p.Ser9Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
S9R (p.Ser9Arg) variant details
- p.Ser9Arg
- NCI-TCGA Cosmic COSV5504
- NCI-TCGA Cosmic COSV9970
- Ensembl rs373639922
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -1.00
- CADD 0.41
- PolyPhen-2 0.04
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available