P14Q (p.Pro14Gln) variant of GATA2 (P23769)
P14Q (p.Pro14Gln) 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 0.67 / 1. The record also includes structural context.
P14Q (p.Pro14Gln) variant details
- p.Pro14Gln
- rs780089207
- ClinGen CA354409176
- ClinVar RCV003804402
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- AlphaMissense 0.35
- MetaLR 0.79
- MetaSVM 0.65
- PolyPhen-2 0.08
- SIFT 0.01
- MutPred 0.43
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available