P42L (p.Pro42Leu) variant of DBH (Dopamine beta-hydroxylase)
P42L (p.Pro42Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- rs547488212
- NCI-TCGA Cosmic COSV5504
- 1000Genomes rs547488212
- ExAC rs547488212
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.11
- MetaLR 0.13
- MetaSVM -0.98
- CADD 15.80
- PolyPhen-2 0.06
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available