Q50P (p.Gln50Pro) variant of HMBS (Porphobilinogen deaminase)
Q50P (p.Gln50Pro) in HMBS (Porphobilinogen deaminase) 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 0.74 / 1. The record also includes published literature and structural context.
Q50P (p.Gln50Pro) variant details
- p.Gln50Pro
- rs765251645
- ClinGen CA382888593
- ClinVar RCV003386495
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- ESM-1b 1.00
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 0.00
- SIFT 0.27
- 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)