S40L (p.Ser40Leu) variant of DBH (Dopamine beta-hydroxylase)
S40L (p.Ser40Leu) 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 0.18 / 1. The record also includes population frequency data and structural context.
S40L (p.Ser40Leu) variant details
- p.Ser40Leu
- rs755891058
- NCI-TCGA Cosmic COSV5503
- ExAC rs755891058
- TOPMed rs755891058
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -0.97
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available