P58L (p.Pro58Leu) variant of GATA2 (P23769)
P58L (p.Pro58Leu) 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 0.79 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- rs2107673477
- ClinGen CA354408471
- ClinVar RCV002942886
- Uncertain significance
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.82
- AlphaMissense 0.47
- MetaLR 0.93
- MetaSVM 0.99
- CADD 32.00
- PolyPhen-2 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available