Y49C (p.Tyr49Cys) variant of DBH (Dopamine beta-hydroxylase)
Y49C (p.Tyr49Cys) in DBH (Dopamine beta-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Orthostatic hypotension 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Y49C (p.Tyr49Cys) variant details
- p.Tyr49Cys
- rs745685569
- ClinGen CA5312959
- NCI-TCGA Cosmic COSV5504
- ClinVar RCV000685606
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.30
- AlphaMissense 0.21
- MetaLR 0.23
- MetaSVM -0.65
- CADD 24.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)