P27R (p.Pro27Arg) variant of GATA2 (P23769)
P27R (p.Pro27Arg) 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 0.64 / 1. The record also includes structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- rs2068709954
- ClinGen CA354408997
- ClinVar RCV003803050
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- AlphaMissense 0.14
- MetaLR 0.85
- MetaSVM 0.74
- PolyPhen-2 0.01
- SIFT 0.03
- MutPred 0.33
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available