P73A (p.Pro73Ala) variant of HFE (Q30201)
P73A (p.Pro73Ala) in HFE (Q30201) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P73A (p.Pro73Ala) variant details
- p.Pro73Ala
- rs1450662478
- ClinGen CA363205737
- ClinVar RCV003215169
- TOPMed rs1450662478
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.09
- CADD 4.82
- PolyPhen-2 0.07
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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)