P58S (p.Pro58Ser) variant of GATA2 (P23769)
P58S (p.Pro58Ser) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
P58S (p.Pro58Ser) variant details
- p.Pro58Ser
- rs2068708070
- ClinGen CA354408479
- ClinVar RCV001226807
- ClinVar RCV004978150
- Uncertain significance
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.23
- MetaLR 0.92
- MetaSVM 0.92
- PolyPhen-2 0.12
- SIFT 0.39
- EVE 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- 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)