P48S (p.Pro48Ser) variant of DBH (Dopamine beta-hydroxylase)
P48S (p.Pro48Ser) 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 0.33 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- NCI-TCGA Cosmic COSV5504
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.20
- MetaLR 0.16
- MetaSVM -0.81
- CADD 19.30
- PolyPhen-2 0.19
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available