A36T (p.Ala36Thr) variant of DBH (Dopamine beta-hydroxylase)
A36T (p.Ala36Thr) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A36T (p.Ala36Thr) variant details
- p.Ala36Thr
- rs143544421
- ClinGen CA5312948
- NCI-TCGA Cosmic COSV5504
- ClinVar RCV001945728
- Uncertain significance
- Orthostatic hypotension 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.14
- MetaLR 0.12
- MetaSVM -0.75
- CADD 20.90
- PolyPhen-2 0.28
- SIFT 0.08
- ClinVar: Uncertain significance (Orthostatic hypotension 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Dopamine Beta-Hydroxylase Deficiency. (PMID 20301647)