Y49F (p.Tyr49Phe) variant of DBH (Dopamine beta-hydroxylase)
Y49F (p.Tyr49Phe) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
Y49F (p.Tyr49Phe) variant details
- p.Tyr49Phe
- rs745685569
- ClinGen CA375407011
- ClinVar RCV002737497
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- AlphaMissense 0.21
- MetaLR 0.23
- MetaSVM -0.65
- PolyPhen-2 0.99
- SIFT 0.01
- EVE 0.93
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)