A15P (p.Ala15Pro) variant of GATA2 (P23769)
A15P (p.Ala15Pro) 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 0.70 / 1. The record also includes structural context.
A15P (p.Ala15Pro) variant details
- p.Ala15Pro
- rs1413920280
- ClinGen CA354409169
- ClinVar RCV003023145
- Uncertain significance
- Inborn genetic diseases; Monocytopenia with susceptibility to infections; Deafne
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.12
- MetaLR 0.91
- MetaSVM 0.99
- PolyPhen-2 0.63
- SIFT 0.02
- MutPred 0.18
- ClinVar: Uncertain significance (Inborn genetic diseases; Monocytopenia with susceptibility to in)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available