N57T (p.Asn57Thr) variant of GATA2 (P23769)
N57T (p.Asn57Thr) 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 0.65 / 1. The record also includes population frequency data and structural context.
N57T (p.Asn57Thr) variant details
- p.Asn57Thr
- rs2068708141
- ClinGen CA354408492
- ClinVar RCV001062656
- Ensembl rs2068708141
- Uncertain significance
- Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infe
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.75
- CADD 25.50
- PolyPhen-2 0.97
- SIFT 0.10
- ClinVar: Uncertain significance (Deafness-lymphedema-leukemia syndrome; Monocytopenia with suscep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available