P73L (p.Pro73Leu) variant of GATA1 (Erythroid transcription factor)
P73L (p.Pro73Leu) in GATA1 (Erythroid transcription factor) 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 0.77 / 1. The record also includes published literature and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs781808940
- ClinGen CA412867310
- ClinVar RCV002788270
- ClinVar RCV005932347
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- AlphaMissense 0.71
- MetaLR 0.95
- MetaSVM 1.03
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.36
- 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)