P27L (p.Pro27Leu) variant of GATA2 (P23769)
P27L (p.Pro27Leu) 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; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- rs2068709954
- ClinGen CA354409001
- ClinVar RCV003801975
- ClinVar RCV005844311
- Uncertain significance
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.40
- AlphaMissense 0.14
- MetaLR 0.85
- MetaSVM 0.74
- CADD 24.90
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)