P14T (p.Pro14Thr) variant of GATA2 (P23769)
P14T (p.Pro14Thr) in GATA2 (P23769) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- rs749214277
- ClinGen CA354409180
- ClinVar RCV002824478
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- AlphaMissense 0.08
- MetaLR 0.79
- MetaSVM 0.49
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.36
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available