P55Q (p.Pro55Gln) variant of DBH (Dopamine beta-hydroxylase)
P55Q (p.Pro55Gln) 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 0.50 / 1. The record also includes population frequency data and structural context.
P55Q (p.Pro55Gln) variant details
- p.Pro55Gln
- rs775127844
- NCI-TCGA Cosmic COSV5503
- NCI-TCGA Cosmic COSV5504
- ExAC rs775127844
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.43
- MetaLR 0.36
- MetaSVM -0.28
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available