S9I (p.Ser9Ile) variant of DBH (Dopamine beta-hydroxylase)
S9I (p.Ser9Ile) 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 0.13 / 1. The record also includes population frequency data and structural context.
S9I (p.Ser9Ile) variant details
- p.Ser9Ile
- NCI-TCGA Cosmic COSV9970
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.06
- MetaLR 0.11
- MetaSVM -0.98
- CADD 5.37
- PolyPhen-2 0.03
- SIFT 0.14
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available